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Robertsonian translocations between chromosomes 13 and 14 (rob[13;14]) are associated with some clinical manifestations, including male infertility and recurrent pregnancy loss (RPL). In this review, the clinical features associated with rob(13;14) translocation are discussed and the incidence rate of rob(13;14) translocation in cytogenetic surveys conducted on infertile males and couples who have experienced RPL compared with the incidence rate in newborns. To this purpose, a total of 30 cases of rob(13;14) translocation showing phenotypic manifestations were re-screened and the equal number of studies (n = 15) that reported chromosome analysis results in infertile men and couples who have experienced RPL were reviewed. The cases reviewed showed that the prominent clinical features associated with rob(13;14) translocation were global developmental delay (GDD), facial dysmorphism, early puberty and undescended testes. Cytogenetic surveys conducted on infertile men and couples who have experienced RPL showed that the proportion of rob(13;14) carriers was two to 25 times higher in infertile men and four to 17 times higher in couples who have experience RPL, compared with the proportion reported in newborns. The reviewed studies revealed that rob(13;14) translocation was consistently associated with some important clinical features; however, the delineation of the causal relationship between rob(13;14) translocation and associated clinical features requires studies to use gene-level approaches.

Global developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the genetic risk factors that may be involved in the etiology of GDD/ID. In this study, 810 children with moderate to severe, clinically unexplained GDD/ID for whom cytogenetic analysis were performed were retrospectively rescreened. The results showed that GDD/ID affected more females than males (2 girls:1 boy). A total of 54 children (6.7%) with GDD showed chromosomal aberrations (CAs): 59.3% of these CAs were structural aberrations, and the rest were numerical aberrations (40.7%). Specifically, inversions, deletions, and reciprocal and robertsonian translocations, which were detected in 1, 0.7, 0.8, and 0.4% of the children, respectively, constituted important categories of structural CAs. Among numerical CAs, classic Turner and mosaics were detected in 1.2% of all children. Trisomy 21 and mosaic trisomy 21 were detected in 1% of the children. Marker chromosomes and 47,XXY karyotypes were found in two children each. Our results suggest that female sex is more affected by CAs among GDD/ID cases, and cytogenetic analysis is useful in the etiological diagnosis of GDD/ID.

Microplastics and associated adverse effects have been on the global agenda in recent years. Because of its importance as a model organism for studies on developmental biology, Xenopus laevis has been chosen as the study animal in in vitro teratogenesis studies. FETAX test uses early-stage embryos of X. laevis to measure the potential of substances to cause mortality, malformation, and growth inhibition in developing embryos. The aim of this study was to examine the effects of high molecular weight polyvinyl chloride (HMW-PVC) on parental X. laevis frogs and their embryos using the FETAX test. To this purpose, a HMW-PVC dose of 1% of body weight/twice each week was provided to frogs by oral gavage throughout 6 weeks. After the procedure, oocytes and sperms of HMW-PVC-exposed frogs were fertilized and FETAX was applied to selected embryos. After the completion of a 96-h incubation period, tadpoles were examined, their live/dead status were determined, their lengths were measured, and their anomalies were photographed. Besides, excised organs of the parental frogs were referred to histopathology examination. On the other hand, the mRNA expression levels of Hsp70, Myf5, Bmp4, Pax6, and Esr1 genes were determined by applying real-time quantitative PCR method to cDNA which was synthesized from the total RNA of embryos. The results showed that treatment with HMW-PVC dose of 1% of body weight/twice each week caused malformations and decreased viability. Hsp70 and Pax6 gene expression levels significantly decreased in all assay groups, as compared with controls. Lung and intestine tissues showed normal appearance in histopatological examination. Further research is required to explain the whole effects of HMW-PVC exposure on X. laevis embryos.

Cytogenetic analysis is helpful in diagnostic workup of patients having prenatal or early postnatal medical problems and provides a basis for genetic counseling or deciding on clinical treatment options. Chromosomal abnormalities (CAs) constitute one of the most important category of genetic defects which have the potential to cause irreversible disorders. In this study, chromosome analysis results of 11,420 patients having congenital malformations or suspected of having chromosomal abnormalities, who were referred to Çukurova University Research and Training Hospital Cytogenetic Laboratory over a 16-year period, were investigated, retrospectively. Of all patients analyzed, CAs were found in 1768 cases, accounting for 15.5% of all cases. It was observed that 1175 (15.5%) of CAs were numerical (10.3%) and 593 (5.2%) were structural chromosome abnormalities. Among numerical CAs, Down syndrome (DS), Turner syndrome (TS) and Klinefelter syndrome (KS) constituted common categories which were observed in 7, 1.1 and 0.9% of all cases, respectively. Among the structural CAs, translocations, inversions, fragilities, deletions,, and others were the most common categories and constituted 2.2, 0.9, 0.9, 0.7, 0.3, and 0.3% of all cases, respectively. The sex ratio (male/female) of all cases was 1.01 and of DS cases was 1.6. Our results further confirmed that cytogenetic analysis is necessary in terms of making definite diagnosis of genetic disorders, providing proper genetic counseling and clinical treatment, assessing the recurrence risk, and preventing the hereditary genetic diseases and disorders. Besides, such studies will greatly assist in constituting national and international databases or records of genetic disorders.

Many xenobiotics in the environment affect the human body in various ways. Among those xenobiotics, lithium chloride (Li, LiCl) and monosodium glutamate (L-glutamic acid monosodium salt, MSG) compounds affect the crucial processes of stem cell differentiation, cell proliferation, developmental gene expression, and overall development in animals. In this study, we aimed to examine the developmental effects of exposure to flavor enhancer MSG and LiCI medicament on Xenopus embryos using the frog embryo teratogenesis assay of Xenopus test. To this purpose, Xenopus laevis embryos were exposed to four different concentrations of MSG (120, 500, 750, 1000 mg/dL) and Li (0.02 g/L) alone and in combinations for a period of 96 h, and then normal, abnormal, and death ratios were determined in all exposure groups. Besides, length values of all groups and membrane potentials of fertilized and non-fertilized oocyte groups treated with 120- and 500-mg/dL MSG doses and 0.02-g/L LiCI dose were measured. Treatment with ADI (acceptable daily intake) dose of MSG alone did not lead to a substantial effect on the development of Xenopus laevis embryos. But, exposure to daily doses exceeding the ADI level (500, 750, 1000 mg/dL) caused significant harmful effects. Besides, Li-involving treatments caused dramatic deleterious effects on embryo development. MSG attenuated harmful effects of Li in MSG+Li combined treatments. Membrane potentials of non-fertilized oocytes and fertilized eggs were significantly changed in all groups that their membrane potentials were measured. Extrapolating these results into humans require similarly designed studies conducted on human embryos.

6q parsiyel monozomilerine ender olarak rastlanmaktadır. Bu çalışmada, 16. kromozomun q22.1→qter bölgesinde değişik düzensizlikler gösteren ve bunlarla birlikte önemli klinik bulguları bulunan bir erkek çocuğu olgusu sunulmaktadır. Hastada; düşük IQ, konuşma güçlüğü, geç psikomotor gelişme ve yürüme, heyecan durumunda el çırpma, sosyal uyumda eksiklik ve akranlarıyla uyumlu olamama gibi klinik bulgulara rastlandı. Hastaya ve ailesine standart sitogenetik kromozom analizi yapıldı. Sitogenetik analiz sonucunda, 16. kromozomun q22.1 bölgesinde delesyonlara, kırıklara ve frajilitelere rastlandı. Hasta ve babasının analiz edilen hücrelerinde, sırasıyla %38 ve %26 oranlarında 16q22.1 bölgesinde yapısal hasarlara rastlandı. Kromozom hasarlarının fenotipik olarak normal görünümlü babadan aktarıldığı anlaşıldı. Bu vakadan elde edilen sonuçlar, diğer q22.1→qter monozomisi vakaları ile karşılaştırmalı olarak değerlendirildiğinde, q22.1→qter delesyon sendromunda geç konuşma ve motor yeteneklerin gelişememesi ile ilişkili kritik kromozom bölgesi daha da spesifik olarak ortaya çıkmıştır.

Bir dalga boyundaki ışıkla uyarıldığında, daha uzun dalgaboyunda ışık üreten maddelere (moleküllere/bileşiklere) floresan maddeler; buolguya floresan ışıma denir. Geleneksel olarak kültür ve hücre izlemelerindekullanılan floresan ışımaya dayalı görüntüleme teknikleri, son on-yıllarda invivo izlemelerde de kullanılmaya başlanmıştır. FLIM, FRET, FRI gibi in vivogörüntüleme düzenekleri çoğunlukla küçük laboratuvar hayvanlarına uygulanırlarve ilgilenilen protein veya biyo-molekülün gerçek zaman-mekanda in vivogörüntülerinin alınmasını olanaklı kılarlar. Bu düzenekler genel olarak,hayvanın üzerine konacağı sahne, birfloresan uyarıcı ışık kaynağı, gelen veemisyon ışık filtreleri, kamera aparatı (CCD kamera) ve dataları alıp analizeden bir yazılım programı elemanlarından oluşmaktadırlar. Herhangi bir in vivoizleme sisteminde, öncelikle hedef protein ya bir doğal floresan reporterproteinle kaynaştırılır ya da uygun görülen floresan boya (florofor bileşik)ile kimyasal olarak işaretlenir; bundan sonra işaretli protein canlı bünyedeizlenir. Başarılı bir in vivo izleme için uygun floresan probun seçilmesi çokönemlidir. İn vivo uygulamalarda kullanılan floresan problar genel olarak hedefgözetmeyen problar, hedefli aktif problar, hedefli aktive edilebilen problar venano-partiküller şeklinde sınıflandırılabilirler. Bu konudaki teknolojininilerlemesi ve daha etkili floresan probların keşfedilmesi floresan ışımayadayalı in vivo izlemelerin daha yaygın olarak kullanılmalarına yolaçacaktır. Bu izlemeler sayesindehastalıkların etiyoloji, prognoz ve tedavi süreçleri hakkında daha detaylıbilgilere ulaşılacağı öngörülmektedir. Bu derlemede floresan ışımanın mekanizması, floresanışıma prensibine dayalı olarak çalışan ve önemli görülen in vivo görüntülemesistemleri ve florofor bileşikler hakkında bilgi verilmesi ve konuyla ilgiliönemli çalışmaların gözden geçirilmesi hedeflenmiştir., Substancesthat absorb light at specific wavelengths and emit light at longer wavelengthsare defined as fluorescent substances and this event is defined asfluorescence. Fluorescence imaging techniques have conventionally been used inculture and cell assays, but in the last decades those techniques have comeinto use in in-vivo assays. In vivo fluorescent assay set-ups such as FLIM,FRET, FRI, which are mostly applied to small laboratory animals, providespatiotemporal in vivo images of any protein or biomolecule. Those set-upsconstitute mainly from animal placement stage, convenient light source,excitation and emission light filters, camera (charge couple device, CCD) anddata collecting and processing software components. For any fluorescent in vivoassay system, firstly target protein is fused to a florescent reporter or boundto appropriate fluorophore and then this fusion or tagged protein is visualizedin the body of live animal. Selection of proper fluorescent probe(s) arevitally important for functionality of assay system. In vivo fluorescent probescan be classified as non-targeting probes, active targeting probes, activabletargeting probes and fluorescent nanoparticles. Technological advancements inthis field and exploration of new effective fluorescent probes will furthergeneralize the use of fluorescence-based in-vivo assays which will provide deepinsights into etiology, prognosis and treatment aspects of diseases. In this study, it was aimed to reviewimportant studies and provide knowledge about general mechanism offluorescence, in-vivo applicable fluorophore compounds and somefluorescence-based in vivo imaging techniques.

Ulkemizin gerek ekonomik ve gerekse sosyal yapisinda meydana gelen iyilesmeler ile kirsal alanlardan kentlere gerceklesen gocler neticesinde ormanlarimizin uzerindeki baski hafiflemis ve ormanlarin yapilarinda iyilesmeler baslamistir. Surdurulebilir ormanciligin gelisimine bir katki olarak Orman Genel Mudurlugu bozuk ve baltalik olarak isletilen mese alanlarinin verimli hale donusturulmesi amaciyla uygulamaya koydugu Mese Ormanlarinin Rehabilitasyonu Eylem Plani (2006-2015) cercevesinde koruya donusturme calismalari hiz kazanmistir. Bozuk ve baltalik mese mescerelerinin rehabilitasyonunda kullanilan en yaygin yontem dip kutuk kesimi ile genclestirmedir. Mevcut calismada Adiyaman Kahta ilcesinde 10 adet mese rehabilitasyon alani secilmis ve dip kutuk kesiminden sonraki surgun sayisi, surgun boylari ve dip kutuk caplari arasindaki iliskiler incelenmistir. Arazideki mese agaclarinin ortalama yasinin 26-31 yil arasinda oldugu belirlenmistir. Olculen kutuk caplari 13-58 cm arasinda degismistir. Kutuk basina dusen surgun sayisi 2-30 arasinda degisim gostermis, surgun boylari ise 45-355 cm arasinda degismistir. Yapilan korelasyon analizleri sonuclarinda rehabilitasyon alanlarina gore farkliliklarin oldugu belirlenmistir. Ayrica, rehabilitasyon sahalarinda uygulanabilecek silvikulturel mudahaleler de tartisilmistir.

Purpose: Here we cytogenetically investigated the chromosomal rearrangements in repeated cultures of six different cell lines over continuous passages. Materials and Methods: MCF7, HCT116, A549, SHSY5Y, HEPG2, and NIH3T3 cell lines were cultured in DMEM containing 10% FBS and 1% penicillin-streptomycin. GTG banding procedure was used for the analysis of metaphase chromosomes, at least 20 metaphases were analyzed per cell line. Results: We found chromosome number variations and structural changes in the all examined cell cultures as the passage numbers increase. Conclusion: Cell lines have long been used in research to test drugs, to delineate molecular mechanisms, to understand the environmental effects and so on. The most important feature of a cell line is its genotype and karyotype similarities with their host organism. Cancer Cell lines, possess genomic/chromosomal instability that also lead them to change their phenotype along with their karyotype from one passage to next. Therefore, it is always best to verify karyotype before employing a specific cell line in a research project. Amaç: İ Burada sitogenetik olarak, altı farklı hücre hattının tekrarlanan hücre kültürlerinde yeni kromozomal düzenlenmeleri araştırdık. Gereç ve Yöntem: MCF7, HCT116, A549, SHSY5Y, HEPG2 ve NIH3T3 hücre hatları, %10 FBS ve %1 penisilin-streptomisin içeren DMEM besiyerinde kültüre edildi. Metafaz kromozomlarının analizi için GTG bantlama prosedürü kullanıldı ve en az 20 metafaz analiz edildi. Bulgular: İncelenen hücre kültürlerinde pasaj sayısı artışıyla kromozom sayı varyasyonları ve yapısal değişiklikler tespit ettik. Sonuç: İlaçları test etmek, moleküler mekanizmaları tanımlamak, çevresel etkileri anlamak için hücre hatları uzun süredir araştırmalarda kullanılmaktadır. Bir hücre dizisinin en önemli özelliği, konak organizmasıyla olan genotip ve karyotip benzerlikleridir. Kanser Hücresi soyları, genomik/kromozomal dengesizliğe sahiptir ve bu da her pasajda fenotip değişimi ile birlikte karyotip değişimine neden olabilmaktedir. Bu nedenle, hücre kültürlerinin kullanılacağı bir araştırma projesine başlamadan muhakkak kullanılan hücre hattının karyotipini doğrulamak gerekmektedir.

Partial monosomies of chromosome 16q are rare. Here, we report a boy showed various aberrations in the q22.1→qter region of chromosome 16 and some important clinical features. The patient presented low IQ, delayed speech, delayed psychomotor development, late walking, clapping hands in case of excitement, deficiency in social adjustment and incompatibility with peers. Standard cytogenetic analysis was performed to patient and his family. Cytogenetic analysis results showed deletions, breaks and fragilities in the q22.1 region in one of chromosome 16. Analyzed cells of patient and his father showed 38% and 26% structural aberrations, respectively. Aberrations were inherited from an apparently normal father. The comparison of the present case to other 16q22.1→qter monosomies contributed to narrow down the critical region for delayed speech and full undeveloped fine motor skills in the 16q22.1→qter deletion syndrome. We showed that 16q deletions are confined to the phenotypic features such as delayed speech, full undeveloped fine motor skills., 6q parsiyel monozomilerine ender olarak rastlanmaktadır. Bu çalışmada, 16. kromozomun q22.1→qter bölgesinde değişik düzensizlikler gösteren ve bunlarla birlikte önemli klinik bulguları bulunan bir erkek çocuğu olgusu sunulmaktadır. Hastada; düşük IQ, konuşma güçlüğü, geç psikomotor gelişme ve yürüme, heyecan durumunda el çırpma, sosyal uyumda eksiklik ve akranlarıyla uyumlu olamama gibi klinik bulgulara rastlandı. Hastaya ve ailesine standart sitogenetik kromozom analizi yapıldı. Sitogenetik analiz sonucunda, 16. kromozomun q22.1 bölgesinde delesyonlara, kırıklara ve frajilitelere rastlandı. Hasta ve babasının analiz edilen hücrelerinde, sırasıyla %38 ve %26 oranlarında 16q22.1 bölgesinde yapısal hasarlara rastlandı. Kromozom hasarlarının fenotipik olarak normal görünümlü babadan aktarıldığı anlaşıldı. Bu vakadan elde edilen sonuçlar, diğer q22.1→qter monozomisi vakaları ile karşılaştırmalı olarak değerlendirildiğinde, q22.1→qter delesyon sendromunda geç konuşma ve motor yeteneklerin gelişememesi ile ilişkili kritik kromozom bölgesi daha da spesifik olarak ortaya çıkmıştır.

Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3. Materials and methods: Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. Results: We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. Conclusion: There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS. Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3. Materials and methods: Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. Results: We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. Conclusion: There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS.

A majority of patients with bladder cancer present with superficial disease and subsequently, some patients show progression to muscle invasive or metastatic disease. Bladder cancer has a complex genetic process and identification of the genetic alterations which occur during progression may lead to the understanding of the nature of the disease and provide the possibility of early treatment. The aim of the present study was to compare the structural and numerical chromosomal differences and changes in the p16 and p53 genes between low-grade (LG) and high-grade (HG) bladder cancer (BC) using cytogenetic and molecular cytogenetic methods. Between March 2009 and March 2010, cytogenetic analyses were carried out on tumor and blood samples in 34 patients with transitional cell type BC, and on blood samples of 34 healthy patients as a control group. Fluorescence in situ hybridization probes for the p16 and p53 genes were also used to screen the alterations in these genes in 32 patients with BC. The patients were divided into two groups (LG and HG) and the findings were compared. A total of 11 (32.3%) patients exhibited LGBC, 22 (64.7%) exhibited HGBC and one (3%) patient exhibited carcinoma in situ. There were no differences between the LGBC and HGBC groups according to the number of chromosomal aberrations (P=0.714); however, differences between alterations of the p16 and p53 genes were significant (P=0.002 and P=0.039). Almost all structural abnormalities were found to be located to the 1q21, 1q32, 3p21 and 5q31 regions in patients with HG tumors. In conclusion, the p16 and p53 genes were altered more prominently in patients with HG tumors compared with LG tumors. The structural abnormalities in the 1q21, 1q32, 3p21 and 5q31 regions were observed more frequently in patients with HG tumors. These regions may play significant roles in the progression of BC, but further studies are required to find candidate genes for a panel of BC.

PubMedID: 26874988 In this retrospective study, karyotype results of 1510 couples with a history of recurrent spontaneous abortion were evaluated. The study was conducted at BalcalI Hospital in Adana region of Turkey. For all cases, peripheral blood lymphocytes were cultured for chromosome study using the standard method. Chromosome aberrations were detected in 62 couples (4.1% of all couples). At an individual level, chromosome aberrations were found in a total of 65 cases (41 females and 24 male cases), with structural chromosomal aberrations in 58 cases including balanced translocations in 30 cases, Robertsonian translocations in 12 cases, deletions in seven cases, inversions in nine cases and numerical chromosome aberrations in seven cases. The results of the study indicated that structural aberrations, particularly translocations, were the most common type of aberration observed among couples who had experienced recurrent spontaneous abortions and that these couples might benefit from cytogenetic analyses. © 2016 Reproductive Healthcare Ltd.

Background: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear. Case Report: We report a case of TD with different prenatal sonographic features compatible with the classification of type I. In the result of cytogenetic examination, we found de novo CAs in 28% of cells analyzed from the affected infant; 75% of the abnormalities were numerical, and of those, 25% were structural aberrations; 21% of cells revealed predominantly numerical aberrations. Monosomy 18, 21 and 22 was observed in 4% of cells, monosomy 20 in 2%, and monosomy 7, 8, 14, 17 and 19 in 1%. Structural changes were observed in 7% of cells. Conclusions: It appears that these chromosomes may be preferentially involved in and important for TD development. © Am J Case Rep.

Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two CasesPatau syndrome is associated with extra chromosome 13 material, either free as in the 47,++13 or in a Robertsonian translocation or another rearrangement. We report on two fetuses with trisomy 13 who were diagnosed prenatally via cord blood and amniocentesis, respectively. They showedde novoRobertsonian translocation between chromosome 13 and 13, and had normal parents. One was detected cytogeneticaly at 24 weeks of gestation with a karyotype of 46, XX, rob(13;13) and lived only 1 month after birth. Holoprosencephaly, proboscis, microphthalmia and heart septal defects were present. The other fetus was examined at 14 weeks gestation because of cystic hygroma, hydrothorax and hyperechogenic kidneys and had the karyotpe 46, XY, rob(13;13). After abortion the fetus was found to have a cleft lip and palate, postaxial polydactyly of the feet, micrognathia, omphalocele, low-set ears with abnormal helix and to be small for the gestational age. Due to the difference in chromosomal makeup seen in non disjunction, there may be differences in expression of several of the features often seen with trisomy 13, either classical type (as in the 47,++13) orde novoRobertsonian translocation type (as in the 46).

Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain, regulation of gonadotropin secretion and sexual interest in adults. Our goal is to determine the developmental mRNA expression patterns of aromatase, estrogen receptor alpha (Esr1) and progesterone receptor (Pgr) in the fetal mouse brain at different times of gestation. Methods: Female mice were mated with fertile males and checked for vaginal plug the next day to confirm successful mating (vaginal plug=day 1 of pregnancy). At gestational days 9-12-15-17-19-21 pregnant mice were sacrificed and fetal brains were removed and mRNAs were isolated and reverse transcribed into cDNAs. In order to evaluate mRNA expression levels, real time PCR was performed employing primers for Cyp19a1, Esr1 and Pgr genes. Results: In our studies, Esr1 and Pgr mRNA expression levels peaked at day 9 and returned to normal adult levels at around day 17-18. Cyp19a1 mRNA expression peaked at day 14-16 along with a drastic decrease in Esr1 and Pgr mRNA expression levels and then returned to normal adult levels around the time of delivery. Conclusion: Cyp19a1 expression in the fetal brain launches around gestational day 11-12 and peaks around gestational day 14-16 and fall back to normal adult levels at around gestational day 19-20. It has been recently reported that Esr1 and Pgr both mediate Cyp19a1 mRNA expression in the mouse brain. Together with these previous reports, our findings may imply that both Esr1 and Pgr possibly play a role in the developmental regulation of aromatase in the fetal mouse brain., Amaç: Bu çalışmadaki amacımız, gonodotropin salgılanması, cinsel dimorfik fetal beyin gelişimi ve yetişkinlerdeki cinsel tercih için çok önemli olan, aromatazın ve östrojen reseptör alfa (Esr1) ve progesteron reseptörlerinin (Pgr) gebeliğin farklı dönemlerindeki mRNA ekspresyon profillerinin eş zamanlı olarak belirlenmesidir. Yöntem: Dişi fareler, üreme potansiyeli olan erkek farelerle çiftleştirildi ve başarılı çiftleşme, bir gün sonra oluşan vajinal plak kontrol edilerek doğrulandı (vajinal plak=gebeliğin birinci günü). Gebeliğin 9-12-15-17-19-21. günlerinde gebe farelerin yaşamları sonlandırıldı ve fetüslere ait beyinler çıkarılarak mRNA izole edildi ve cDNA haline çevrildi. mRNA ekspresyon düzeylerinin belirlenmesi Cyp19a1, Esr1 ve Pgr genlerine özgün primerler ile real time PCR yöntemi kullanılarak gerçekleştirildi. Bulgular: Çalışmalarımızda; Esr1 ve Pgr mRNA ekspresyon düzeyleri 9. günde tepe noktaya ulaştı, 17-18. günlerde ise normal yetişkin düzeylerine döndü. Cyp19a1 mRNA ekspresyonu, Esr1 ve Pgr mRNA düzeylerindeki ciddi bir azalmayla beraber, 15-16. günde tepe noktaya ulaştı ve takriben doğumun olacağı dönemlerde normal erişkin seviyelerine indi. Sonuç: Fetal beyinde Cyp19a1 ekspresyonu gebeliğin 11-12. günü civarında başlar ve 15-16. günlerinde tepe noktasına ulaşır. Bunu takiben 19-20. günlerinde de normal yetişkin seviyelerine iner. Son zamanlarda rapor edilen çalışmalarda, Esr1 ve Pgr"nin fare beyninde Cyp19a1 mRNA ekspresyonunun düzenlenmesinde rol oynadığı belirtilmiştir. Bu çalışmalar ışığında bizim bulgularımız, Esr1 ve Pgr"nin fetal fare beyninde aromataz ekspresyonun düzenlenmesinde rol oynadığını düşündürebilir.

Amaç: Bu çalışmanın amacı, çukurova ve çevresindeki populasyonda konsepsiyon ayı, ebeveynlerin yaşları, mevsimsel değişimler, ebeveynlerin alkol ve sigara kullanım durumları gibi çevresel değişkenlerin fetal cinsiyet oranını etkileyip etkilemediklerini tespit etmektir. Materyal ve Metod: Bu çalışmada, 2005-2007 yılları arasında amniyosentez maksadıyla prenatal tanı laboratuvarımıza yönlendirilen hastaların verilerini analiz ettik. Istatistiksel analiz için ki-kare, Fisher"s exact ve T testlerini uyguladık. Bulgular: Konsepsiyon zamanı ile primer cinsiyet oranı arasında bir ilişki tespit edilemedi. Aylara göre primer cinsiyet oranındaki değişimlerin istatistiksel olarak anlamlı olmadığı gözlendi. İstisna olarak eylül ayındaki değişim kaydedildi. Eylül ayında istatistiksel olarak anlamlı bir şekilde cinsiyet oranının erkeğe doğru değiştiği saptandı (erkek:kadın oranı=1.8). Sonuç: Yaz/sonbahar fotoperiyodunda bulunan eylül ayındaki iklimsel değişimin, cinsiyet oranındaki bu farklılaşmayı etkilediğini düşünmekteyiz.

PubMedID: 26003190 The phenomenon of feta-maternal microchimerisms inspires numerous questions. Many questions remain to be answered regarding this new avenue of genetics. The X and Y chromosomes have been associated with malignancy in different types of human tumors. We aimed to investigate the numerical aberrations of chromosomes X and Y in lung cancer (LC) and bladder cancer (BC) and review recent evidence for possible roles of microchimeric cells (McCs) in these cancers. We carried out cytogenetic analysis of the tumor and blood sampling in 52 cases of people with BC and LC, and also with 30 healthy people. A total of 48 (92.3 %) of the patients revealed sex chromosome aneuploidies (SCAs). A total SCAs was found in 9.8 % of 2282 cells that were analyzed as one or more cells in each case. The 68 and 95 SCAs were found in the 1952 (8.4 %) cells in peripheral blood, and 41 and 19 SCAs in the 330 (18.2 %) cells in the tumoral tissues respectively. There was a significant difference in the frequencies of SCAs between the patients and the control groups determined by the Fischer’s Exact Test (p < 0.0001). The frequencies of SCAs were higher in the tumoral tissues than in the blood (p < 0.0001). There was a significant difference in the frequencies of SCAs between the tumor and blood tissues, and this was higher in the tumor tissue (p < 0.0001). In general, 78.9 % (41) of the 52 patients with LC and BC had X and Y chromosome monosomies. Largely a Y chromosome loss was present in 77.8 % of the men, and the 47, XXY karyotype was found in 33.3 % of them. The second most common SCA was monosomy X, and was found in 71.4 % of the women. McCs were observed in 26.9 % of the 52 patients, and the frequencies of McCs were higher in the blood than in the tissues (p < 0.0001). XY cells were identified in the lung and bladder tissues of the women who had been pregnant with boys, but not in those who had not. There was a significant difference in the frequencies of McCs between the LC and BC patients (p < 0.0005). We speculate that the microchimerism could have a general beneficial role in cancer, in which some sites may not be evident because of an allogeneic maternal immune reaction that hastens cancer development. A further understanding of McCs may help in anticipating its implications in cancer. Our results may suggest that SCAs may be contributing factors in the development of LC and BC, and aneuploidies of X and Y chromosomes play a role in the pathogenesis of cancers. © 2015, Arányi Lajos Foundation.

Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family. It is a case report of a patient presented at Medical Faculty of Ηukurova University in Turkey. An 8-year-old girl with ring chromosome 22 and her family were evaluated cytogenetically and clinically. A chromosome analysis of the proband revealed a de novo 46,XX,r(22)(p11.2;q13) karyotype. Our subject demonstrated the prominent features of this syndrome including profound mental retardation, language impairment, dysmorphic features, lack of speech, hyperactivity, and behavioral disorders. There is lack of consistency between the physical abnormalities that we observed in our subject and those observed for such patients in the literature. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.

Agresif davranış ve hiperaktivite, nedeni ve patogenezi bilinmeyen genetik nörogelişimsel hastalıklardır. Perisentrik inv(10)(p11.2;q21.2) mutasyonu sitogenetik laboratuarlarında sıklıkla tanımlanmaktadır. Bu olgu fenotipik olarak sessizdir ve polimorfik bir varyant olduğu düşünülmektedir ancak bazı hastalarda otizm gibi nörogelişimsel hastalıklarla ilişkilendirilmiştir. Bir erkek çocuğunun, G-bantlama boya tekniği kullanılarak karyotip incelemesi yapıldı. Bu çalışmada; gelişme geriliği, mental motor retardasyonu, dikkat eksikliği ve hiperaktivite hastalığı olan bir erkek çocuğunun klinik ve sitogenetik bulguları rapor edildi. Kromozom analizi sonucunda, 10. kromozomun p11.1 ve q22.1 bantları arasındaki bölgeyi kapsayan geniş bir perisentrik inversiyon saptandı. Probandın anne, baba ve kardeşlerinin karyotiplerinin normal olduğu bulundu. Bulgumuz, inv(10)’un davranış bozukluğu hastalıkları ile ilişkili olabileceğini düşündürmektedir. Bununla birlikte, moleküler çalışmalar, hastalığın patogenezine dahil olan 10p–q kritik bölgesinde yer alan genlerin bulunmasına ve hastalığın daha iyi tanımlanmasına yardımcı olacaktır. Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular studies targeting 10p-q critical region will be more informative for the true identification of this disease.

Giriş: Zeka geriliği, genel populasyonda %2-3 gibi oldukça yüksek bir oranda bulunan ve vakaların %50'sinden fazlasında sebebi bulunamayan bir sağlık problemidir. En önemli nedenlerinden birisi kromozom düzensizlikleri olup hasta seçimi ve kullanılan yöntemlere bağlı olarak zeka özürlü vakaların %4-28'inde saptanmaktadır. Özellikle, kromozomların subtelomerik bölgelerinde gözlenen yeniden düzenlenmeler, zeka geriliği ve/veya malformasyon sendromlarında en önemli neden olarak kaydedilmiştir. Bu çalışmada, anormal yüz görünümü ve zeka geriliği ile homolog olmayan kromozomların her iki eşleri arasında görülen translokasyon [t(16;19)(q24;q12)x2] arasındaki ilişkinin belirlenmesi amaçlanmıştır.Materyal ve Metod: Çalışmamızda ÇÜ Balcalı Hastanesi Pediatrik Nöroloji polikliniğinden anormal yüz görünümü ve zeka geriliği tanısı ile Anabilim Dalımız Genetik laboratuvarına kromozom analizi için gönderilen 15 yaşındaki kız çocuğunun 72 saatlik lenfosit kültürü standart protokollere uygun olarak yapıldı. Bulgular: Yapılan kromozom analizinde hastanın, 16. ve 19. kromozomlarının her iki eşleri arasında dengeli homozigot translokasyona [t(16;19)(q24;q12)x2] sahip olduğu bulundu. Buna göre, ebeveynlerin de karyotip analizleri yapıldı. Annenin ve babanın bu translokasyonu heterozigot olarak taşıdığı belirlendi. Sonuç: Çok nadir olarak gözlenen homozigot dengeli translokasyonun [t(16;19)(q24;q12)x2] varlığı indeks olguya ebeveynlerden geçmiş olup, bu yeniden düzenlenmenin hem homozigot halde olması hem de subtelomerik bölgede gerçekleşmesi nedeni ile anormal yüz görünümü ve zeka geriliğinin geliştiği söylenebilir. Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Materials and Methods: Chromosomal analysis of peripheral blood lymphocytes from the proband and her family were performed with standart protocols at the Cukurova University hospital in Turkey. Results: We assessed the second and third generation of the family in which the translocation between chromosomes 16 and 19 segregates: one of the three progenies with the karyotype 46,XY, t(16;19)(q24;q12) was heterozygote for the translocation and presented normal phenotype. One of the three progenies with the karyotype 46,XY presented normal phenotype also and the third with the karyotype 46,XY [t(16;19)(q24;q12)x2] was the proband. The parents were consanguinous, heterozygote for the translocation, and presented normal phenotype. Conclusions: Atypical facial appearance and mental retardation could be associated with the homozygote translocation. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.

PubMedID: 23621213 Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associated with a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play a crucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated the effects of CAs and the p53 gene on ULs. We performed cytogenetic analysis by G-banding in 10 cases undergoing myomectomy or hysterectomy. Fluorescence in situ hybridization (FISH) with a p53 gene probe was also used on interphase nuclei to screen for deletions. In patients, CAs were found in 23.4% of 500 cells analysed, significantly more frequent than in the control group (p

Objectives: Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha ( ESR1 ) and catechol- O -methyltransferase ( COMT ) genes and the risk of developing familial prostate carcinoma. Materials and Methods: In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes. Results: Among control patients, the ESR1 Pvu II genotypes of C/C, C/T and T/T were observed in 37%, 26% and 37%, respectively, whereas the C/C, C/T and T/T genotypes were observed in 18%, 41% and 41% of case patients, respectively. Among controls, the ESR1 Pvu II allele frequencies of C and T were equally observed, whereas the C and T allele frequencies were observed in 38% and 62% of patients, respectively. Among ESR1 Pvu II genotypes there were not any significant difference in terms of genotype ( P = 0.199) and allele ( P = 0.181) frequencies . Among controls, the ESR1 XbaI genotypes of G/G, G/A and A/A were observed in 33%, 37% and 33%, respectively, whereas the G/G, G/A and A/A genotypes were observed in 12%, 47% and 41% of patients, respectively. Among controls, the ESR1 XbaI allele frequencies of A and G were observed equally, respectively, whereas the A and G frequencies were observed in 65% and 35% of patients, respectively. Among ESR1 Χ baI, there was not any significant difference in terms of genotype ( P = 0.111) and allele ( P = 0.093) frequencies. But the C/C genotype of the Pvu II site and G/G genotype of the XbaI site in the ESR1 gene were associated significantly with the risk of developing prostate carcinoma. The G/G, G/A and A/A genotypes of the COMT gene were observed in 50%, 29% and 21% of control patients and in 53%, 21% and 26% of case patients, respectively. The A and G allele frequencies of the COMT gene were observed in 36.7%, 63.3% of control patients and in 36.8%, 63.2% of case patients, respectively. In COMT gene , there was not any significant difference in terms of genotype ( P = 0.843) and allele ( P = 0.991) frequencies . But the G/A genotype of the COMT gene had a weak tendency toward increased risk. Conclusion: Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.

Fetal cells can enter maternal blood during pregnancy but whether they can also cross the blood-brain barrier to enter the maternal brain remains poorly understood. Previous results suggest that fetal cells are summoned to repair damage to the mother's brain. If this is confirmed, it would open up new and safer avenues of treatment for brain damage caused by strokes and neural diseases. In this study, we aimed to investigate whether a baby's stem cells can enter the maternal brain during pregnancy. Deceased patients who had at least one male offspring and no history of abortion and blood transfusion were included in this study. DNA was extracted from brain tissue samples of deceased women using standard phenol-chloroform extraction and ethanol precipitation methods. Genomic DNA was screened by quantitative fluorescent-polymerase chain reaction amplification together with short tandem repeat markers specific to the Y chromosome, and 13, 18, 21 and X. Any foreign DNA residues that could be used to interpret the presence of fetal stem cells in the maternal brain were monitored. Results indicated that fetal stem cells can not cross the blood-brain barrier to enter the maternal brain.

PubMedID: 22200434 Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS. © 2012 National Kidney Foundation, Inc. TF2009BAP21, TF2009BAP8, TF2009D2, TF2009BAP43 This study was mostly sponsored by Y.S. and by Cukurova University , Adana, Turkey for genetical material supplements under Cukurova University grants TF2009BAP8, TF2009BAP43, TF2009BAP21, and TF2009D2 . Y.S. also participated to the ISURAT Congress, May 12-14, 2001, Nagoya, Japan as a speaker on this subject; his flight was sponsored by ISURAT (International Society on Uremia Research and Toxicity).

PubMedID: 22813662 Cytogenetic analysis is an important stage in understanding the genetic background of manic depression (MD), and may provide a valuable clue to the identification of target loci and successful search for major genes. In order to identify chromosomal regions we aimed to detect the relationships between chromosomal aberrations (CAs) and immunological markers in a family with MD and psoriasis. We used the cell cultivation and conventional G-banding. We found predominantly numerical aberrations. The most common aneuploidy was chromosome 8, followed by chromosome 22, 21, 15, X and Y. However, structural aberrations consisted of duplications, deletions, translocations and breaks, with a focus on: loci on del(1)(q12-q23), del(1)(q21.1-q24), del(1)(q21.1-q23), del(10)(p11.2-pter), der(2)t(2;4)(p25;p12), t(2;22)(p14;p13), t(19;Y)? and dup(10)(q26). The susceptibility genes of MD or psoriasis may be located on these loci. Numerical sex CAs included 4(5.8%) with 45,X, 3(4.3%) with 47,XXY, and 4(5.8%) with structural chromosome X; del(X)(q13); del(X)(p11-pter) del(X)(q21.3) and inv(Y)(q11.2). We also conducted an immunological study. According results of this study, the percentage of CD2+, CD4+ and CD8+ lymphocytes of the father were significantly higher, whereas CD4+ lymphocytes were decreased in the mother, when compared the healthy persons. The percentage of CD4 level of the son was decreased, whereas CD8+ lymphocytes were higher. The CD4/CD8 ratio of the father and the son was found to be significantly high. These results may suggest that MD and psoriasis have a significant impact on both genetic and immunological parameters. © 2012 Elsevier B.V.

PubMedID: 22035122 Context: Recent studies have suggested a direct contribution of nicotine - the addictive component of tobacco and tobacco smoke - to human carcinogenesis, and it remains the most common harmful substance to which pregnant women are exposed. Also, it has deleterious effects on the fetus. The sperm of smoking fathers and newborns of smoking mothers have elevated frequencies of chromosome translocations and DNA strand breaks. Objective: We tried to understand the genotoxic effect of nicotine in pregnancies of active or passive smoking mothers. For this reason, we provide the evidence that nicotine exposure in vitro has detrimental effects on fetal cells. Materials and methods: We examined the effect of nicotine sulphate on amniotic cells by designing an experimental setting consisting fetal cells grown in nicotine containing medium (25ng/mL) in study group and fetal cells grown in control medium, which did not contain nicotine. Results: According to our findings, there is a significant difference of chromosomal aberrations (CAs) between nicotine containing medium grown cells and control medium grown cells, determined by the ?2 test (P

PubMedID: 21699408 Aim: The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women. Method: Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy. A total of 1725 pregnancies with chromosomal abnormality risk according to triple test screening were accepted for fetal chromosome analysis and quantitative fluorescent-polymerase chain reaction. Results: Chromosomal aberrations were observed in 56 (3.2%) cases. About 44.6% of the abnormalities detected were numerical aberrations; however, 55.3% of the abnormalities were structural aberrations. Abnormalities detected were inversion of chromosome 9 in 20 cases, trisomy 21 in 14 cases, 46,XX/47,XX, +21 in 1 case, trisomy 18 in 2 cases, trisomy 13 in 1 case, 47,XXY, in 1 case, 45,X, in 1 case, structural abnormalities in 12 cases, and mosaic or tetraploidy in 6 cases. Conclusion: Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women. © 2011, Mary Ann Liebert, Inc.

Amaç: Bu çalışma ile kürete edilmiş bir fetüste, bir yenidoğanda ve bunların ebeveynlerinde 5 ve 7. kromozomlar arasında görülen yeniden düzenlenmenin klinik sonuçları değerlendirildi. Yöntem ve Gereç: Bu çalışmada kürete edilmiş bir fetüs, bir yeni doğan ve bunların ebeveynlerinden fetal kan, amnion sıvısı ve periferik kan materyallerine standart protokoller uygulanarak karyotip analizi yapıldı.. Yeni doğana, prenatal ve postnatal olarak karyotipleme işlemi uygulandı. Bulgular: Analizler sonucunda; 5. ve 7. kromozomlar arasında translokasyon saptandı.. Kürete edilmiş fetüste dengesiz ve yeni doğanda dengeli translokasyon bulundu. Fenotipik olarak normal annede, türemiş bir 5. kromozom gözlendi. Annenin karyotipi, 46,XX,der(5)t(5:7)(p15p11) fleklinde idi. Annedeki bu dengeli translokasyon kürete edilmiş fetüste 46,XY,der(5)t(5:7)(p15p11)mat dengesiz karyotip fleklinde idi. Türemiş 5. kromozom, 7. kromozomun kısa kolunun tamamını taşıyordu. Bunun dışındaki 7. kromozomlar normal görünüyorlardı. Fetüs, 7p trizomisi (türemiş 5. kromozomdan kaynaklı 7p trizomisi) ile uyumlu çeşitli yapısal bozukluklar gösteriyordu. Bununla birlikte fetüste, bu olgu ile ilişkili olarak literatürde rastlanmayan akciğer bulguları olduğu kaydedildi. Sonuç: Elde edilen bulgulara göre; parsiyel trizomili hastaların ebeveynlerinin rutin karyotip analizleri yapılmalıdır. Bu analizler,riskli ailelerin sonraki gebeliklerinde anormal çocuk doğurma riskini azaltmada fayda sağlayacaktır. Aim: In this study, we aimed to put forth the clinical consequences of rearrangement between chromosomes 5 and 7 observed in one fetus, one newborn infant (siblings) and their parents. Materials and Methods: We performed chromosomal analysis in one fetus, one newborn (siblings) and their parents, applying standard protocols to fetal blood, amniotic fluid and peripheral blood samples. We performed both prenatal and postnatal karyotyping in the newborn infant. Results: We described rearrangements related to chromosomes 5 and 7 in these individuals. We found that the curetted fetus and newborn infant were carriers of unbalanced and balanced rearrangements, respectively. We also found that the mother was a carrier of derivative chromosome 5 with [46,XX,der(5)t(5:7)(p15p11)] karyotype. The prenatal and postnatal karyotypes of the newborn infant confirmed an apparently identical nonreciprocal translocation between chromosomes 5 and 7, the same rearrangement as we found in the mother. We also found that the curetted fetus was carrier of derivative chromosome 5, [46,XY,der(5)t(5:7)(p15p11)mat]. The der(5) contained a complete short arm of chromosome 7. Otherwise both chromosomes 7 appeared normal. The fetus had malformations consistent with trisomy 7p as a result of familial derivative 5. However, the lung findings have not been reported before. Conclusions: Karyotype analysis should be routinely performed in parents of partial trisomy patients and would be beneficial in identifying parents who clearly have a significant recurrence risk for abnormal offspring.

PubMedID: 17880960 Objective: To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies, congenital hydronephrosis, and recurrent miscarriages in an extended family. Design: Case report. Setting: Medical Faculty of Cukurova University in Turkey. Patient(s): Referred by obstetrics and gynecology clinic. Intervention(s): Fetal urine and lymphocytic karyotype. Main Outcome Measure(s): Chromosomal analysis from fetal urine and peripheral blood lymphocytes were performed according to standard cytogenetic methods. Result(s): We assessed an extended family in which a large pericentric inversion in chromosome 7 is segregating; one of the three progenies with the karyotype 46,XY,inv(7)(p22;q22) was heterozygote for the inversion and presented with congenital hydronephrosis. His mother, mother's brother, grandfather, grandfather's brother, and his daughter were similar for the inversion. Conclusion(s): This case describes the further molecular characterization of these breakpoints on the short or long arm of chromosome 7(p22-q22). The inv(7) is also associated with fetal wastage and may be playing a role in the etiology of the family's miscarriages. These findings can be used in clinical genetics and may be an effective tool for reproductive guidance and genetic counseling. © 2008 American Society for Reproductive Medicine.

There is substantial evidence that genetic alterations are contributing factors to the risk for recurrent miscarriages. This study was conducted to determine the frequency and contribution of chromosomal abnormalities in miscarriages and in couples with recurrent miscarriages. We studied a total of 41 miscarriages and their parents with a history of 2-11 recurrent miscarriages. Chromosomal analysis from chorionic villus sampling (CVS) and fetal tissues were performed according to standard cytogenetic methods using G-banding technique. Major chromosomal aberrations and polymorphic variants were found in 51 and 4.8%, respectively. The chromosomal abnormalities were structural (34.4%) and numerical (65.1%) of which 26.1, 21.7, 8.7 and 8.7% were fetal sex aneuploid, triploid, mosaics and trisomic, respectively. Unbalanced and balanced rearrangements were found in 17.2 and 8.6% of all abnormalities, respectively. Major chromosomal abnormalities in couples were seen in 4.9%. The chromosomal abnormalities associated with pregnancy losses and recurrent miscarriages are mostly numerical ones. The incidence of balanced translocations found here is 4.9% which is near to the mode (about 3-6%) observed in the previous studies. Those frequencies are greater than in the general population (0.3%). This indicates that balanced translocations, seen in parents, have some importance in causing miscarriage. The major parental chromosomal aberrations are significantly associated with fetal wastage. Mosaicism should be taken into account for cytogenetic analyses of pregnancy losses. Thus, cytogenetic analyses should be recommended in couples with recurrent miscarriages, when clinical data fail to clarify the cause. © Nauka/Interperiodica 2007.