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Introduction: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole-genome non-invasive prenatal screening (NIPS). Material and methods: Pregnant women carrying a fetus with an unbalanced familial translocation, for whom NIPS as well as microarray data were available, were included in this retrospective assessment. NIPS was performed in the course of the TRIDENT study. Results: In 12 cases, both NIPS and microarray data were available. In 10 of 12 cases the unbalanced translocation was correctly identified by NIPS without prior knowledge on parental translocation. One was missed because the fetal fraction was too low. One was missed because of technical restrictions in calling 16p gains. Conclusions: This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present.

Objective: This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. Methods: This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. Results: After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (n = 42), 47,XXX (n = 20), 47,XYY (n = 16), and 45,X (n = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. Conclusion: NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

Purpose To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital. Methods A retrospective analysis of invasive prenatal procedures performed between 1991 and 2016. Maternal characteristics, indications for invasive diagnosis, and percentage of abnormal karyotypes were compared between periods according to guidelines implemented nationally and locally. Results A total of 14,302 invasive prenatal procedures were performed. The proportion of invasive procedures performed for advanced maternal age, abnormal karyotype in a previous pregnancy, and maternal anxiety decreased from 71.1%, 17.8%, 8.9% in 1991 to 23.9%, 1.3%, and 2.3% in 2016 (OR 0.6, 0.8, and 0.9 for each 5 years, respectively; p < 0.001), while the proportion of invasive procedures performed for abnormal ultrasound increased from 2.2% in 1991 to 51.6% in 2016 (OR 1.9 for each 5 years; p < 0.001). Abnormal karyotype was found in 9.7%. The proportion of abnormal karyotypes increased significantly from 0.0% in 1991 to 15.7% in 2016 (OR 1.35 for each 5-year period; p < 0.001). The odds of abnormal karyotype increased after the implementation of the Ordinance of the Minister of Health in 2003 (OR 1.6), the National Prenatal Screening Program in 2007 (OR 2.2), and the in-house genetic counseling with combined first trimester screening in 2015 (OR 3.1). Conclusions Significant changes in prenatal diagnosis led to a better selection of patients undergoing invasive prenatal procedures. The implementation of in-house genetic counseling was associated with an increased rate of the detection of abnormal karyotypes.

Introduction: Chromosomal abnormalities are one of the important causes of male infertility. Numerical and structural chromosomal abnormalities are seen frequently in men with azoospermia and severe oligospermia. Other abnormalities include Y Chromosome Microdeletions (YCMD), Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations affecting the internal ductal system, genes affecting sperm function and other non-specific disorders. Upto 14% of the men with azoospermia and severe oligospermia have karyotypic abnormalities. Aim: To determine the prevalence of abnormal karyotypes among men with azoospermia and severe oligozoospermia (

The three-dimensional conformation of genomes is an essential component of their biological activity. The advent of the Hi-C technology enabled an unprecedented progress in our understanding of genome structures. However, Hi-C is subject to systematic biases that can compromise downstream analyses. Several strategies have been proposed to remove those biases, but the issue of abnormal karyotypes received little attention. Many experiments are performed in cancer cell lines, which typically harbor large-scale copy number variations that create visible defects on the raw Hi-C maps. The consequences of these widespread artifacts on the normalized maps are mostly unexplored. We observed that current normalization methods are not robust to the presence of large-scale copy number variations, potentially obscuring biological differences and enhancing batch effects. To address this issue, we developed an alternative approach designed to take into account chromosomal abnormalities. The method, called OneD, increases reproducibility among replicates of Hi-C samples with abnormal karyotype, outperforming previous methods significantly. On normal karyotypes, OneD fared equally well as state-of-the-art methods, making it a safe choice for Hi-C normalization. OneD is fast and scales well in terms of computing resources for resolutions up to 5 kb. Spanish Ministry of Economy and Competitiveness ‘Centro de Excelencia Severo Ochoa 2013–2017’ [SEV-2012-0208]; ACER (to C.R.G.); EMBO Long-term Fellowship [ALTF 1201-2014 to R.S.]; Marie Curie Individual Fellowship [H2020-MSCA-IF-2014]; European Research Council under the European Union’s Seventh Framework Programme [FP7/2007–2013)/ERC Synergy grant agreement 609989 (4DGenome)]. We acknowledge the support of the CERCA Programme / Generalitat de Catalunya. Funding for open access charge: European Research Council.

We report a case of complete tetraploidy in amniotic fluid culture obtained at 17 wk of pregnancy. Amniocentesis was performed in this pregnancy because of a high-risk maternal serum screening result and abnormal ultrasound findings. Amniotic fluid was cultured in two flasks. Growth was very slow in one culture with no growth in the other. Harvest was possible after 3 wk, which revealed tetraploidy in all studied plates. Subsequent cordocentesis was performed to confirm the diagnoses of amniocentesis. Chromosomal analysis of the cordocentesis revealed a normal karyotype with 46,XY. A healthy male infant was born at term. This case illustrates that abnormal karyotypes in poor growth cultures could be misleading and should be confirmed by another technique, such as cordocentesis.

Background/aim Angiolipoma is a rare benign soft tissue tumor composed of mature adipocytes and blood vessels. Genetic information on angiolipomas is scarce. With the single exception of one tumor which carried a t(X;2)(p22;p12), all angiolipomas hitherto investigated cytogenetically had normal karyotypes. Materials and methods G-banding chromosome analysis was performed on three short-term cultured angiolipomas. Fluorescence in situ hybridization (FISH) analysis using a commercially available RB1 deletion probe was also done. Results All three angiolipomas had abnormal karyotypes with loss or structural rearrangement of chromosome 13. The first tumor had the karyotype 46,XY,-6,del(13)(q14),+mar[cp5], the second had 44~45,XY,t(1;10;15)(p21~22;q24;q24),-13[cp5], and the third karyotype was 43,XX,t(13;22;17) (q12;q13; q22~23)[14]. FISH analysis showed heterozygous and homozygous deletion of the RB1 probe in case 2 and 3, respectively. FISH analysis failed in case 1. Conclusion Chromosome 13 was consistently involved in all three angiolipomas.

MotivationDetection of abnormal karyotypes from whole-exome sequencing has significant clinical potential, enabling a primary screen for chromosomal anomalies among samples undergoing short-read sequencing for nucleotide resolution genomic characterization.ResultsWe present KaryoScan, a high-throughput method for detecting chromosomal anomalies within large cohort exome sequencing studies. We detect and validate autosomal and sex chromosomal aneuploidies in a large exome sequencing cohort, and demonstrate detection of smaller and complex events (partial chromosome, mosaic, copy neutral, and complex rearrangements), representing the range of anomalies that can be uncovered from the exome.Availabilityhttps://github.com/rgcgithub/karyoscan

Our aim is to determine the frequency of chromosomal abnormalities and also to identify the role of structural malformations on the chromosomal abnormality risk among fetuses with echogenic bowel.Over a 6-year period fetuses with echogenic bowel (FEB) were retrospectively evaluated. The pregnancies with intra-amniotic bleeding history, congenital infection, cystic fibrosis and intrauterine growth retardation were excluded from the study. Types and frequency of sonographically detected fetal malformations were identified. Chromosomal abnormality incidences according to association with soft markers and major fetal abnormalities were compared.Of the 281 fetuses with echogenic bowel, 105 (37.37%) were isolated, 78 (27.76%) were associated with soft markers and 98 (34.87%) were associated with major abnormalities. There were 30 (10.7%) fetuses with abnormal karyotypes. The chromosomal abnormality rate of the groups of isolated FEB, FEB + soft markers and FEB + major abnormalities were 6.7%, 7.7% and 17.4%, respectively.Chromosomal abnormality risk in fetuses with echogenic bowel should be evaluated according to additional sonographic findings. Association of structural malformations increases the chromosomal abnormality risk, although this risk is not significant with the presence of soft markers alone.

We report the first large series (n=596) of pediatric acute myeloid leukemia (AML) focusing on modal numbers (MN) from the population-based NOPHO-AML trials. Abnormal karyotypes were present in 452 ...

We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abortions. To the best of our knowledge, this is the first report of this translocation in a specific ethnic group. We conclude that the derivative chromosome 15 with chromosome Y is probably a normal variant in Ethiopian Beta Israel occurring at an estimated frequency of 4/74 (5.4%). The prenatal diagnosis of this translocation in this population probably does not require further parental testing.

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

Little information is available on cytogenetic abnormalities and their prognostic importance in childhood mature B-cell non-Hodgkin lymphoma (B-NHL). We performed a review of 79 abnormal karyotypes in childhood B-NHL treated by a uniform protocol. Del(17p) was independently associated with significantly inferior event-free survival in Burkitt or Burkitt-like lymphoma. The adverse prognosis of MYC/8q24 rearrangement, +7q or del(13q), was not observed, which had been suggested as risk factors in FAB/LMB96. Our results imply the possible existence of a biological difference among ethnicities and should be useful to narrow down the gene causing poor prognosis in childhood B-NHL.

Introduction Karyotyping is often performed in transsexual individuals. Aim Quantification and characterization of karyotype findings and abnormalities in transsexual persons. Main Outcome Measures Karyotypes were listed both in male‐to‐female and in female‐to‐male transsexual persons. Methods The data were collected through a retrospective study. Results Karyotypes of 368 transsexual individuals (251 male‐to‐female, 117 female‐to‐male) are described. Normal findings were found in 97.55%. Prevalence of abnormal karyotypes was 3.19% among male‐to‐female, and 0.85% among female‐to‐male transsexuals. Nine karyotypes showed variations; Klinefelter syndrome was confirmed in three persons, whereas others displayed autosomal aberrations. Conclusion Karyotyping is only of very limited information in the transsexual population. Inoubli A, De Cuypere G, Rubens R, Heylens G, Elaut E, Van Caenegem E, Menten B, and T'Sjoen G. Karyotyping, is it worthwhile in transsexualism?

To compare the molecular cytogenetic characteristics between Waldenström macroglobulinemia (WM) and multiple myeloma (MM), we performed interphase fluorescent in situ hybridization (FISH) in Korean patients with WM and MM. Forty patients with WM and 132 patients with MM were enrolled onto the study. FISH was performed with seven different probes: 6q21, 6q23, CEP4, CEP9, immunoglobulin (IgH) breakapart, RB1 gene, and 1q25. Out of 22 WM patients, 4 (18%) had abnormal karyotypes, mainly structural changes on conventional karyotyping. After performing FISH for the available 29 cases, deletions of 6q23 and 6q21 were newly detected in 3 cases (10%). There was no other anomaly, including trisomy 4 in WM. No 6q deletion was observed in MM patients, but RB1 deletion was the most common change (45%), followed by IgH translocation (42%) and gain of 1q (38%). In conclusion, Korean WM patients had a low rate of 6q deletion (10%) and no trisomy 4.

Item does not contain fulltext BACKGROUND: For men with azoospermia, it is possible to father their own progeny by intracytoplasmic sperm injection (ICSI) with epididymal or testicular sperm. Some studies show that children born after assisted reproductive technology (ART) are at increased risk of birth defects, other studies suggest that there is no extra concern about ICSI children conceived with epididymal or testicular sperm. METHODS: Studies about the karyotypes of fetuses, congenital anomalies and the follow-up of the children born after ICSI with non-ejaculated sperm were identified by means of a systematic literature search. RESULTS: Eight relevant studies were identified; two studies reported karyotype, five reported malformations and one reported follow-up of children after ICSI. In total, there were 55 out of 1973 (2.8%) abnormal karyotypes in the ICSI with ejaculated sperm group, 0 out of 31 in the ICSI with epididymal sperm group and 5 out of 191 (2.6%) in the ICSI with testicular sperm group. Major malformations were found in 543 out of 12 377 (4.4%) in the ICSI with ejaculated sperm group, 17 out of 533 (3.2%) in the ICSI with epididymal sperm group and 31 out of 670 (4.6%) in the ICSI with testicular sperm group. CONCLUSIONS: Although there were no statistical differences, the study groups were small and heterogenic, with a number of potential biases. We therefore recommend a standardized methodology of follow-up studies after ART, with well-defined groups of ICSI with ejaculated sperm, ICSI with epididymal sperm and ICSI with testicular sperm, and a control group of naturally conceived children.

The reason for primary amenorrhea is very complicated. One of the main causes is chromosome anomalies. Karyotype analysis of 131 patients with primary amenorrhea using the G-banding technique revealed that 83 patients (63.36%) have a normal female karyotype, and 48 patients (36.64%) have abnormal karyotypes including three novel abnormal karyotypes [46,X,t(X;1)(q22;p34); 46,X,t(X;5;6)(p11.2;q35;q16); 46,XX,t(4;9)(q21;p22),(6;10)(p25;q25), t(11; 14)(q23; q32)]. In addition, when the clinical features and karyotypes of 33 Turner's(TS) patients were compared with M.Elsheikh's data, significant differences were found in the proportion of short stature, webbed neck, low posterior hairline and cubitus valgus, which suggests that there are differences in clinical features of TS patients between westerner and easterner. Karyotype analysis of two patients with X-autosome translocations indicated that Xp11.2 and Xq22 may be associated with primary amenorrhea.

Objective To investigate the factors resulting in spontaneous abortion after transferring frozen-thawing blastocysts. Methods A total of 108 cases transferring vitrified blastocysts were divided into two groups: abortion group (n=20) and ongoing group (n=88). Cytogenetic analysis of apoblemas was performed in 12 cases of the abortion. Results The overall spontaneous abortion rate was 18.50%(20/108) and the early spontaneous rate was 16.67%(18/108). A significant difference in maternal age was observed (abortion group: 33.3 ± 4.0 years, ongoing group: 31.0 ± 3.6 years, P=0.02). No difference in other parameters was found. Cytogenetic analysis of apoblemas was obtained for 12 cases, and 2 specimens were contaminated. Seven of ten patients had abnormal karyotypes. Conclusion The underlying cause of spontaneous abortion after transferring frozen- thawing blastocysts appears to be abnormal karyotypes. Advancing maternal age seems to increase the risk of spontaneous abortion.

We screened 26 ependymomas in 22 patients (7 WHO grade I, myxopapillary, myE; 6 WHO grade II, E; 13 WHO grade III, anaplastic, aE) using comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). 25 out of 26 tumors showed chromosomal imbalances on CGH analysis. The chromosomal region most frequently affected by losses of genomic material clustered on 13q (9/26). 6/7 myE showed a loss on 13q14-q31. Other chromosomes affected by genomic losses were 6q (5/26), 4q (5/26), 10 (5/26), and 2q (4/26). The most consistent chromosomal abnormality in ependymomas so far reported, is monosomy 22 or structural abnormality 22q, identified in approximately one third of Giemsa-banded cases with abnormal karyotypes. Using FISH, loss or monosomy 22q was detected in small subpopulations of tumor cells in 36% of cases. The most frequent gains involved chromosome arms 17 (8/26), 9q (7/26), 20q (7/26), and 22q (6/26). Gains on 1q were found exclusively in pediatric ependymomas (5/10). Using FISH, MYCN proto-oncogene DNA amplifications mapped to 2p23-p24 were found in 2 spinal ependymomas of adults. On average, myE demonstrated 9.14, E 5.33, and aE 1.77 gains and/or losses on different chromosomes per tumor using CGH. Thus, and quite paradoxically, in ependymomas, a high frequency of imbalanced chromosomal regions as revealed by CGH does not indicate a high WHO grade of the tumor but is more frequent in grade I tumors.

Sinonasal carcinomas, including nonkeratinizing (NK) squamous cell carcinoma (SCC) and sinonasal undifferentiated carcinoma (SNUC), are uncommon malignant neoplasms arising from the Schneiderian respiratory epithelium of the nasal cavity and paranasal sinuses. Due to their low frequency, the cytogenetic data on these tumors is limited.Seventeen patients who were operated on in our institution for extirpation of paranasal carcinomas were enrolled in this study. Fourteen pathologically confirmed samples of sinonasal carcinomas were cytogenetically analyzed using G-banding techniques after short-term culture. Three samples did not grow on culture.Five of the 14 sinonasal carcinomas had an abnormal karyotype (36%). Of the 9 NK SCCs, 3 had abnormal karyotypes with numerical and structural chromosomal anomalies. Of the 5 patients with SNUC, 2 had an abnormal karyotype. One case of SNUC had a diploid complex karyotype. Another case of SNUC had a near triploid composite karyotype with 60-69 chromosomes. The chromosome arms that involved frequent breakpoint and rearrangements were: 1p, 6p, 7p, and 12q. We found that 3 of the 3 patients who died of disease displayed an abnormal karyotype, whereas 2 of the 11 patients who are alive displayed an abnormal karyotype (P = 0.027).The study revealed that more than a third of the paranasal carcinomas carry an abnormal karyotype. No specific common aberrations were found in these tumors. To our knowledge this is the first attempt to investigate sinonasal squamous and undifferentiated carcinomas on a genetic level using G-banding technique. Additional studies are required in order to determine whether cytogenetic data may serve as an adjunct to conventional pathology for the diagnosis and prognosis assessment of these rare and highly aggressive tumors.

KEYWORDS Cytogenetic; sex anomalies; mosaic; karyotype ABSTRACT The relationship between abnormal chromosomal constitution and sex anomalies has been established since the development of cytogenetic methods. Determination of chromosomal status is the prerequisite for precise diagnosis and counseling of any case with sex anomaly. It is also essential for defining genotypic and phenotypic correlation and understanding the basic mechanism involved in sex determination. In the present study, 156 cases with sex anomalies were investigated. 40 cases (25.6%) showed abnormal karyotypes. These included 10 cases with mosacism, of which 7 were with 45,X/46,XX chromosomal complement; 2 had marker chromosome, 45,X/46,X,+mar; and 1 case showed 46,XY/47,XXY constitution.

We investigated the usefulness of fluorescence in situ hybridization (FISH) panels when testing for chromosomal aberrations of known prognostic significance in chronic lymphocytic leukemia (CLL) and multiple myeloma (MM). Our CLL panel included probes for 11q, 12 centromere, 13q, 14, and 17p. Karyotype and FISH were abnormal in 13 of 60 (21.6%) cases, two (3.3%) abnormal by karyotype alone, and 25 (41.6%) by FISH alone. Karyotype and FISH were normal in 16 (27%) patients, and 4 samples were unsuitable for karyotype analysis. One patient had an abnormality not included in the panel (20q deletion). FISH was abnormal in 19 cases (31.6%) with a normal karyotype and in 6 cases with no analyzable metaphases. Thirteen CLL cases with abnormal karyotypes were either confirmed or clarified by FISH. The MM panel probes were 11q, 13q, 17p, and t(11;14). Karyotype and FISH were abnormal in 18 of 139 (13%) MM cases. Twenty patients (14.4%) had a normal karyotype and abnormal FISH. Two samples not suitable for metaphase analysis were abnormal by interphase FISH. Karyotype and FISH were normal in 94 (68%) patients. Five patients (3.6%) had chromosomal abnormalities not included in the panel. Compared to karyotyping alone, the FISH panels improved the detection rate of recurrent chromosomal aberrations in CLL from 22–63% and in MM from 15–29%.

Objectives: Cytogenetic evaluation of product of conception (POC) is essential to determine the cause of pregnancy loss and aid the prenatal diagnosis of subsequent pregnancies. The purpose of this study is twofold. (1) To profile cytogenetic abnormalities, their relationship with maternal and gestational age and analyze sex ratios in our case series of 2052 consecutive samples of POC referred to the Baystate Medical Center, Laboratory Genetics between January 1992 and January 1999. (2) To present a comprehensive review of such data published in the last 15 years, in order to study temporal differences in the above parameters and make this information readily available for cytogeneticists and genetic counselors. Materials and methods: Data was entered and analyzed in Epi Info version 6.0 using the Z-test, chi-square test of significance and linear correlation coefficient. Results and conclusions: The profile of cytogenetic abnormalities detected in POC has not changes significantly over time. The mean maternal age in our study (overall and for trisomies) was higher than that reported previously, which is consistent with the noted trend of increasing age at pregnancy in recent years. Our study provides evidence that abnormal karyotypes are aborted earlier and that tetraploidies have the least survival amongst all abnormalities. The higher mean gestational age for trisomic abortions in our study, as compared with previously reported figures, can be attributed to the increasing practice of active maternal screening with subsequent therapeutic abortions. Analysis of sex ratios may reaffirm a female specific developmental disadvantage in early stages of pregnancy.

Tum gebeliklerin, farkli gebelik haftalarinda spontan dusuk riski % 15-20’dir. Dusuk orneklerinde kromozom anomalisi sikligi % 50-60 arasinda degismektedir. Geriye donuk olarak planlanan bu calismada laboratuarimiza gelen dusuk orneklerinde gozlenen sitogenetik anomaliler degerlendirildi. Samsun ve cevresinden 2006-2009 tarihleri arasinda sitogenetik laboratuarimiza gonderilen, cogunlugu ilk trimester dusugu olan toplam110 dusuk materyaline doku kulturu yapildi. Elde edilen kromozomlara GTG (Tripsin-Gimza) bantlama uygulanarak karyotip analizleri yapildi. Sitogenetik inceleme yapilan dusuk materyallerinin 83 (% 75,5)’unde normal kromozom yapisi gozlenirken, 12 (% 11)’sinde anoploidi, 6 (% 5,4)’sinda mozaik anoploidi, 4 (% 3,6)’unde poliploidi, 2 (% 1,8)’sinde mozaik poliploidi, 2 (% 1,8)’sinde translokasyon ve 1 (% 0,9)’inde inversiyon gozlenmistir. Calismamiz, bolgemizde ilk kez yapiliyor olmasi ve dusuklerdeki kromozom anomalisi sikliginin saptanmasi acisindan onemlidir. Dusuk orneklerinde sitogenetik incelemenin yapilmasi ve aileye genetik danismanlik verilmesi sonraki gebelikler icin dikkatli olunmasini saglayacaktir. Cytogenetic analysis results of abortus materials Approximately 15-20% of all clinically recognized pregnancies are spontaneously aborted at different weeks. Rates of abnormal karyotypes were 50-60% in abortus material. In this retrospective study, we have investigated the chromosomal anomalies in abortus materials which referred to our labotatuary. One hundred and ten abortus material which were mostly first trimester were investigated between 2000-2009 years in Samsun and around. Karyotyping was performed on tissue culture and G-banded performed to chromosomes. In cytogenetic analysis of abortus material 83 (75.5%) revealed normal karyotype, 12 (11%) aneuploidy, 6 (5.4%) mosaic, 4 (3.6%) polyploidy, 2 (1.8%) mosaic polyploidy, 2 (1.8%) traslocation and 1 (0.9%) inversion. This study is important because this is the first study in Black Sea region and the first data of chromosome anomaly frequency in abortus material in this region. Cytogenetic investigation of abortus material and then to give a genetic counseling to the family will provide an attention for following pregnancies. J. Exp. Clin. Med., 2012; 29:113-115

© Nicholson This article is distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and redistribution in any medium, provided that the original author and source are credited. Cancers are defined by abnormal karyotypes, displaying ever-changing structural and numerical abnormalities. Such plasticity of the karyotype underlies the evolution of cancer cells (Navin et al. 2011, Pavelka, Rancati, and Li 2010, Lee et al. 2011, Nicholson and Duesberg 2009). Karyotype alterations are also responsible for phenotypic variation and evolution in yeast (Rancati et al. 2008, Pavelka, Rancati, and Li 2010) and arguably of species in general (King 1993, McCarthy 2008). Because the alterations in the karyotypes of cancer cells have been shown to be non-random and stable within limits (Li et al. 2009, Nicholson and Duesberg 2009, Gebhart and Liehr 2000, Mertens et al. 1997), recently it has been proposed that carcinogenesis may be a form of speciation (Duesberg et al. 2011, Vincent 2010)

Background: Dermatoglyphics is the scientific study of the skin ridge patterns on the fingers, toes, palms of the hands and soles of feet. Dermatoglyphics is in use as a supportive diagnostic tool in genetic or chromosomal disorders as well as in clinical conditions with genetic etiologies. Primary amenorrhoea and Dermatoglyphics, both have the suspected multifactorial (genetic and environmental) aetiologies. Objective: In the present study the finger dermatoglyphic patterns were studied in primary amenorrhoea cases and age matched fertile control females and also attention was given to find out whether a specific dermatoglyphic trait exists in primary amenorrhoea cases and whether it was statistically significant. Materials and Methods: To study the role of dermatoglyphics in primary amenorrhoea, a study was conducted on 30 subjects with primary amenorrhoea (as cases) and compared it with equal number of age matched fertile females (as controls). We studied fingertip patterns in all the subjects enrolled. Simultaneously we have assessed the Karyotype of primary amenorrhoea cases. Result and Conclusion: Two subjects in experimental group have shown abnormal Karyotypes. The most significant finding in present study was increased total finger ridge count (TFRC) in primary amenorrhoea cases which was statistically significant. We also found higher frequency of loops and arches in primary amenorrhoea with abnormal karyotypes. This type of study may be quite useful as a supportive investigation, in stating the predisposition of an individual to primary amenorrhoea and referral of an individual for karyotyping.

Purpose: Critically ill neonates are frequently transfused with packed red cells. Some of these transfused neonates also need chromosome analysis. There is a long-standing tradition in pediatrics of not performing chromosome analysis after transfusion. We wished to determine whether transfusion with packed red cells affect the cytogenetic results in neonates. Method: The medical records of all neonates at the Medical College of Georgia who had had chromosome analysis between June 1995 and June 1998 were reviewed. Ten neonates had received transfusion prior to cytogenetic testing. Of these 10 infants, two had been transfused two or more times. Routine cytogenetic analysis of 20 metaphases at 550-band level had been performed on all 10 patients. Heteromorphic markers were compared in 10 randomly selected metaphases for any discrepancy. To determine whether there were theoretical reasons to delay chromosome analysis in transfused neonates, samples of irradiated, and/or filtered, and nonfiltered blood were obtained from the blood bank and analyzed for the presence of lymphocytes. Results: Prior transfusion did not affect karyotype results. A nonmosaic abnormal karyotype was found in 3 of the 10 patients. A fourth patient's karyotype was 45,X/47,XXX. This mosaicism was constitutive and consistent as demonstrated by a follow-up chromosome analysis. All other abnormal karyotypes were consistent with the dysmorphic phenotype. Randomly selected metaphases did not show any differences in the identifiable heteromorphic markers in all 10 patients. Although there was a 50% chance of patients receiving blood from a donor of opposite sex, there were no instances in which cells with a karyotype of the opposite sex were found in the patients' blood. The irradiated and filtered cultured donor blood samples did not show any metaphases. However, metaphases were seen in the cultures from nonfiltered and nonirradiated donor blood. Conclusions: Based on these results one does not need to delay karyotyping babies who have had blood transfusions. Packed red cell transfusion in newborns does not compromise the accuracy of chromosome analysis in our study even with multiple transfusions.

Cardiac myxomas are significant causes of cardiovascular morbidity and mortality. Their genetic background is presently unknown. Recently, linkage analysis in cardiac myxomas of Carney complex patients has indicated that 2p16 and 17q2 might carry genes responsible for the development of hereditary cardiac myxomas. Less is known about sporadic cardiac myxomas. To date, cytogenetic analysis has been performed on 13 sporadic cases, and no specific rearrangement has been deduced. We studied 15 sporadic cardiac myxomas and reviewed the literature. Ten of the present cases revealed abnormal karyotypes with clonal and nonclonal rearrangements including dicentric chromosomes and telomeric associations. No cytogenetic evidence was found for a role of 2p16 in the development of sporadic cases. Region 17q2 was involved in structural rearrangements, but to a lesser extent than other regions. Structural rearrangements involving regions 12p1 and 17p1 are more frequently present and might therefore harbor genes important for the development of sporadic cardiac myxomas.

Spectral karyotyping (SKY) is a powerful 24-color, whole chromosome-painting assay allowing the visualization of each chromosome in one experiment. Subtle karyotype rearrangements can be detected easily so that small translocations lead to a transition from one color to another at the chromosomal breakpoint region. SKY has enabled the elucidation of several examples of hidden or "cryptic" structural aberrations that may otherwise have been left undetected by classical cytogenetic methods. Furthermore, the chromosomal origins of abnormalities once designated "marker chromosomes" can now be determined rather than left unidentified. SKY analysis of cancer cytogenetics samples provides a much more detailed description of the highly abnormal karyotypes that characterize advanced tumors and cancer cell lines. In addition, SKY significantly adds to the power of clinical cytogenetic analysis of constitutional chromosomal aberrations by facilitating the identification of subtle structural rearrangements that may contain aneuploidy with potential pathological consequences.

Hepatoblastoma is a rare pediatric malignant tumor of the liver. Previous cytogenetic reports are sporadic. We karyotyped nine consecutive hepatoblastomas from the Italian centers participating in a multicentric study on hepatic tumors (SIOPEL 1). Six cases showed abnormal karyotypes. The most common abnormalities were trisomies of chromosomes 2 and 20. Four cases showed abnormalities of chromosome 1. On the basis of findings, we speculate the possibility of a cytogenetic evolutive pattern of hepatoblastomas.

We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/−5, del(6q)/+6, del(7q)/−7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P< 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P< 0,0001), evolution of disease (P< 0,0001), and mortality (P< 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.

We present a database and a review of published literature on discrepancies in chorionic villus (CV) diagnostic findings. The review includes 457 cases of discrepancies between CV findings (direct, culture, or both) and the fetus. One hundred and one cases reported normal by CV direct harvest included 30 with abnormal or mosaic abnormal fetal karyotype (30% false negatives). The corresponding number of false negatives for CV culture was only 4 cases out of 133 (3%). Assuming no bias in reporting cases based on site of discrepancy (assumption may not hold), these data imply that the probability of false-negative findings is 10-fold higher by CV direct method compared to CV culture method. We also reviewed recent studies reporting on large series of CV diagnosis. This review revealed that the reported overall frequencies of discrepancies as a percentage of abnormal and mosaic abnormal CV results ranged from 11 to 63% (a mean of 37%). These data, together with recent reports of survival of embryos with reported abnormal karyotypes because of confined placental mosaicism (CPM), raise several questions pertaining to the predictive value of CV sampling and the origin of the discrepancies in the fetal-placental unit. Caution is recommended in counseling patients undergoing CV sampling to provide appropriate follow-up studies in cases of possible discrepancies.

Osteochondroma is the most common benign bone tumor. However, there are infrequent studies karyotyping solitary osteochondromas.Retrospective review of the University of California, Los Angeles pathology database was performed for karyotype analyses (N = 522 specimens).Two previously undescribed karyotypes were identified. First, was a karyotype showing paracentric inversion of chromosome 7. Second, was a karyotype showing monosomy 3, 6 and 13.Abnormal karyotypes may be more frequently encountered in osteochondroma than previously understood. However, the clinical significance of these abnormalities are yet unknown.

Pregnancy loss is quite common, with 15–20 % of recognized pregnancies resulting in failure. The majority of these occur early in gestation, though losses in the second and third trimester are not rare. Approximately 2–5 % of women will experience two or more losses. The majority of pregnancy failures are associated with cytogenetic abnormalities, with over 50 % of early miscarriages and as many as 5 % of stillbirths exhibiting abnormal karyotypes.

Objective: To determine the prevalence of chromosomal abnormalities in relation to sperm concentration in subfertile oligozoospermic men. Design: Retrospective cohort study. Setting: Two teaching hospitals. Patient(s): We retrospectively studied all men who received chromosomal analysis prior to intracytoplasmic sperm injection (ICSI) treatment from 2000 to 2010 in two teaching hospitals. Intervention(s): None. Main Outcome Measure(s): The results of chromosomal analysis and semen analysis were recorded. The frequency of abnormal karyotypes was analyzed in relation to the sperm concentration, categorized as extreme oligozoospermia (>0 to 1 to 5 to 20 million/mL). Result(s): Among 582 male ICSI candidates, the rates of abnormal karyotypes were 1.2% (2/162), 2.2% (5/227), and 1.5% (2/130) for men with extreme, severe, and moderate oligozoospermia, respectively. No abnormalities were present in normospermic men. Conclusion(s): The risk of conceiving a viable child with unbalanced structural chromosomal abnormalities in men with oligozoospermia may not justify karyotyping. (Fertil Steril (R) 2012;98:1438-42. (C) 2012 by American Society for Reproductive Medicine.)

Phosphaturic mesenchymal tumor of mixed connective tissue type is a rare, histologically distinctive mesenchymal neoplasm associated with tumor-induced osteomalacia resulting from production of the phosphaturic hormone fibroblast growth factor 23. Because of its rarity, specific genetic alterations that contribute to the pathogenesis of these tumors have yet to be elucidated. Herein, we report the abnormal karyotypes from 2 cases of confirmed phosphaturic mesenchymal tumor of mixed connective tissue type. G-banded analysis demonstrated the first tumor to have a karyotype of 46,Y,t(X;3;14)(q13;p25;q21)[15]/46XY[5], and the second tumor to have a karyotype of 46, XY,add(2)(q31),add(4)(q31.1)[2]/92,slx2[3]/46,sl,der(2)t(2;4)(q14.2;p14),der(4)t(2;4)(q14.2;p14),add(4)(q31.1)[10]/46,sdl,add(13)(q34)[4]/92,sdl2x2[1]. These represent what is, to our knowledge, the first examples of abnormal karyotypes obtained from phosphaturic mesenchymal tumor of mixed connective tissue type.

We analyzed the karyotype of fetuses with ultrasonographically detected neural tube defects (NTDs). In our study, we included a total of 194 fetuses with NTDs. We analyzed the type of NTD, the karyotype, maternal age, fetal gestational age at diagnosis, and fetal sex. Of the 194 fetuses with NTDs, 87 were anencephalic and 107 had other, nonanencephalic, NTDs. A total of 12 fetuses were shown to have chromosomal abnormalities. Three of 87 anencephalic fetuses (3.45%) had chromosomal abnormalities. The sex ratio for anencephalic fetuses was 65.5% : 34.5% for female and male fetuses. Nine of 107 fetuses with other NTDs (8.41%) had chromosomal abnormalities. Seven fetuses had isolated NTDs and a further seven fetuses had additional ultrasonographic anomalies. Two of the latter had abnormal karyotypes. The sex ratio of all other NTD cases was 67.3% : 32.7% for female and male fetuses. The high number of chromosomal abnormalities justifies prenatal karyotyping in all fetuses with ultrasonographically diagnosed NTDs.

The i(12p) chromosome has been shown to characterize more than 80% of male germ cell tumors (GCTs) and is an important diagnostic marker. Although recent cytogenetic analyses of GCTs have defined nonrandom chromosome abnormalities in these tumors, no attempt has so far been made to compare i(12p)-positive and -negative tumors in terms of their cytogenetic, histologic, and clinical features. During a 5-year period, we have ascertained 202 GCTs, of which 117 had clonally abnormal karyotypes. Among the latter, 91 had one or more copies of i(12p), whereas 26 lacked an i(12p). We report here the karyotypic analysis of these 26 i(12p)-negative GCTs. In this group, nonrandom sites of chromosomal rearrangements included 12p13 (9/26) and 1p11-q11 (5/26). Comparison of the cytogenetic features of i(12p)-negative tumors with i(12p)-positive tumors revealed the only significant difference to be rearrangements affecting 12p 13 in the former (35%) as compared to their absence in the latter (3%). Hybridization of metaphase preparations of 9 i(12p)-negative tumors with a chromosome 12 painting probe and with a microdissected 12p painting probe revealed extra copies of chromosome 12 segments incorporated into marker chromosomes whose composition could not otherwise be resolved by banding analysis; all were shown to be derived from 12p. These data demonstrate that both i(12p)-negative and -positive groups are characterized by an increased copy number of 12p, which is consistent with a lack of significant clinical or biological difference between them. An increased 12p copy number thus is a specific aberration of significance to the development of germ cell tumors. © 1993 Wiley-Liss, Inc.

R-banded karyotypes were established on fibroblasts from fibrotic tissues derived from experimental fibrosis induced in pigs, either surgically or by 64 Gy of γ-rays from iridium-192. No chromosome aberrations were observed in the surgical fibrosis. In radiation-induced fibrosis, the high frequency of abnormal karyotypes and the frequent complexity of the chromosomal rearrangements suggest that the fibroblasts originated either from the 64-Gy area, or from the penumbra, but certainly not from non-irradiated areas. At early passages in vitro, almost all karyotypes were different, demonstrating a multiclonal origin of fibrotic tissue. At late passages (above 24), the situation was quite different, with the persistence of one or two clones only, demonstrating a strong selective pressure occurring in vitro.

This unit describes a protocol for the large-scale expansion of karyotypically normal human embryonic stem cells (hESCs). hESCs can be maintained indefinitely as dense colonies that are mechanically cut into pieces, which are subsequently transferred to fresh organ culture dishes seeded with primary mouse embryonic fibroblasts (MEFs). hESCs can also be enzymatically passaged (bulk culture); however, over time, this style of culturing may lead to the acquisition of chromosomal abnormalities. Nevertheless, enzymatic passaging can be used for short periods (up to 25 passages) without the appearance of cells with abnormal karyotypes. Curr. Protoc. Stem Cell Biol. 5:1C.1.11C.1.7. C ! 2008 by John Wiley & Sons, Inc.

During a 4-year period, 83 pregnant women with fetal choroid plexus cysts were investigated in our unit. Abnormal karyotypes were found in 20 fetuses, including trisomy 18 (n = 16), trisomy 13 (n = 1), triploidy (n = 1) and translocation Down's syndrome (n = 2). All fetuses with chromosomal defects had structural malformations in addition to the choroid plexus cysts.

One hundred and thirty-four bulls representing 11 different beef breeds were karyotyped. Abnormal karyotypes were found in eight animals. Five bulls carried one copy of the 1;29 translocation, two bulls carried two copies, and one bull was a 60,XX/60,XY chimera. No association between scrotal circumference and risk of carrying the translocation was found. All bulls carrying the translocation were of continental beef breeds. No translocations were found in the 38 bulls of the British breeds: Hereford, Angus, and Shorthorn. Key words: Translocation, chimera, chromosome, fertility, beef cattle

We report a case of congenital telangiectatic focal nodular hyperplasia, a rare variant form of the disease. The patient was a 2-month-old boy whose parents noticed abdominal distention about 2 weeks after birth, and ultrasonogram revealed a large mass in the liver. He underwent right lobectomy, and gross findings showed an ill-defined mass without any central scar. Histologic findings demonstrated proliferating hepatocytes without atypia arranged in cords of 1- or 2-cell thickness with marked sinusoidal dilatation and extramedullary hematopoiesis. In addition, a significantly increased Ki-67 labeling index in the tumor compared with non-tumor liver cells, and cytogenetic analysis of 23 G-banded metaphase preparations revealed 3 abnormal karyotypes, suggesting hyperplastic or neoplastic features. To the best of our knowledge, the present case is only the third documented case of congenital telangiectatic focal nodular hyperplasia.

Pregnancy loss is quite common, with 15–20% of recognized pregnancies resulting in failure. The majority of these occur early in gestation, although losses in the second and third trimester are not rare. Approximately 2–5% of women will experience two or more losses. The majority of pregnancy failures are associated with cytogenetic abnormalities, with over 50% of early miscarriages and as many as 5% of stillbirths exhibiting abnormal karyotypes.