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Background: In Egypt, where research into the underlying cytogenetic and molecular causes of infertility is scarce, unexplained infertility presents a substantial clinical and emotional difficulty for many couples. This study attempts to fill a gap in knowledge on the chromosomal disorders that cause infertility in Egyptian couples. Methods: In order to compile research on cytogenetic and molecular anomalies in Egyptian couples with unexplained infertility, an extensive database search was performed. Translocations, inversions, and aneuploidies were the primary focus of this study. Studies discussing the diagnostic utility of chromosomal analysis and molecular markers were considered and critically appraised up to April 2023 for this review. Results: The results suggest that cytogenetic and molecular abnormalities are responsible for a significant proportion of unexplained infertility in Egypt. Disruption of gametogenesis, abnormal embryonic development, and problems with genomic imprinting have all been linked to chromosomal abnormalities, which are typically missed in routine infertility examinations. Improved understanding of the causes of infertility and the potential for individualized therapies has resulted from the development of genetic testing. Conclusions: There is a strong correlation between cytogenetic and molecular abnormalities and unexplained infertility in Egypt. It becomes clear that karyotypic and molecular chromosomal examination are essential parts of the diagnostic process for afflicted couples. This analysis highlights the need for improved diagnosis techniques and the creation of individualized treatments. The ethical implications of genetic testing and Assisted reproductive technology are substantial, calling for a careful weighing of technology advantages and moral issues. New genetic and chromosomal therapies show promise in reducing infertility problems, and they fit in with current trends in ethics, medicine, and scientific inquiry. Future Directions: Future research in reproductive genetics should aim to improve diagnosis accuracy and provide therapies that are targeted to individual genetic profiles. There is a need for both ethical norms and instructional initiatives to help couples make informed choices about genetic testing and reproductive treatments. [ABSTRACT FROM AUTHOR]

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This paper presents the results of field tests and chromosome analysis for five micropropagated clones of triploid white poplar (Populus alba L.) and grey poplar (Populus × canescens Sm.), which are of a mixoploid nature. In order to assess the ecological and genetic potential of the plants, they are tested in different edaphic conditions. It is found that the clones (genotypes) at the age of 2–23 years grown on black soil (chernozem) had better survival index, preservation rate, growth, and health state than the same clones grown on poor dry acidic sandy loams. Under conditions of edaphic stress, clones had a higher cytogenetic polymorphism and heterogeneity of somatic cells (compared to chernozem). Apparently, the genetic and presumably epigenetic variability, manifested in a change in the degree of mixoploidy (the ratio of cells of different levels of ploidy) depending on environmental conditions and the nature of gene expression (an increase in the proportion of cells with residual nucleoli in the metaphase of mitosis), can provide the most effective implementation of the functions of genes for the adaptation of clones in adverse conditions. The study demonstrated that the response of clones to adverse growing conditions largely depends on their genotypic characteristics (including characteristics of the species). The clone of the grey poplar had the highest ecological plasticity. This clone has a broad genetic basis (it is a hybridogenic species, mixoploid, allotriploid), which expands the possibilities for its use in various growing conditions. Micropropagated clones of the white poplar execute their production potential (growth) on chernozem or alluvial soils. [ABSTRACT FROM AUTHOR]

Abstract Background β-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of the Beta chain synthesis of haemoglobin leading to severe anaemia. Klinefelter syndrome is a chromosomal abnormality that affects physical and cognitive development in males. Affected individuals are taller, show gynaecomastia and behavioural problems and have small testes that do not produce much testosterone. We describe a boy with β-Thalassemia major referred for chromosomal analysis due to delayed puberty and short stature. This is a second case reported in the literature that gives information on two different contradicting genetic disorders in a single individual but novel case as he exhibits additional short-stature phenotype. Case presentation A 17-year-old boy with short stature and gonadal dysfunction was referred for chromosomal analysis. He needed blood transfusion every 4 weeks. The GTG banding for chromosomal analysis and standard PCR for variant detection of HBB gene, Bi-directional Sanger sequencing of the PCR products and multiplex PCR for Y microdeletion of the AZF a, b and c regions on the Y chromosome were performed. The cytogenetic analysis revealed a karyotype of 47,XXY. The HBB gene detected two heterozygous variants forming a pathogenic compound heterozygous condition. The multiplex PCR revealed that the AZF a, b and c regions were intact and were not deleted. Conclusion To our knowledge, this is the second case of a patient with β-Thalassemia associated with Klinefelter syndrome but a novel case with short-stature phenotype association instead of tall stature. The possible association of these two disorders and the unusual phenotypic presentation are discussed. This study highlights the possibility of ruling out Thalassemia while evaluating patients with short stature and delayed puberty.

Background: β-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of the Beta chain synthesis of haemoglobin leading to severe anaemia. Klinefelter syndrome is a chromosomal abnormality that affects physical and cognitive development in males. Affected individuals are taller, show gynaecomastia and behavioural problems and have small testes that do not produce much testosterone. We describe a boy with β-Thalassemia major referred for chromosomal analysis due to delayed puberty and short stature. This is a second case reported in the literature that gives information on two different contradicting genetic disorders in a single individual but novel case as he exhibits additional short-stature phenotype. Case presentation: A 17-year-old boy with short stature and gonadal dysfunction was referred for chromosomal analysis. He needed blood transfusion every 4 weeks. The GTG banding for chromosomal analysis and standard PCR for variant detection of HBB gene, Bi-directional Sanger sequencing of the PCR products and multiplex PCR for Y microdeletion of the AZF a, b and c regions on the Y chromosome were performed. The cytogenetic analysis revealed a karyotype of 47,XXY. The HBB gene detected two heterozygous variants forming a pathogenic compound heterozygous condition. The multiplex PCR revealed that the AZF a, b and c regions were intact and were not deleted. Conclusion: To our knowledge, this is the second case of a patient with β-Thalassemia associated with Klinefelter syndrome but a novel case with short-stature phenotype association instead of tall stature. The possible association of these two disorders and the unusual phenotypic presentation are discussed. This study highlights the possibility of ruling out Thalassemia while evaluating patients with short stature and delayed puberty. [ABSTRACT FROM AUTHOR]

B-cell lymphomas, chromosomal analysis, immunoglobulin kappa light-chain gene, immunoglobulin lambda light-chain gene, immunoglobulin light-chain restrictions Keywords: B-cell lymphomas; chromosomal analysis; immunoglobulin kappa light-chain gene; immunoglobulin lambda light-chain gene; immunoglobulin light-chain restrictions EN B-cell lymphomas chromosomal analysis immunoglobulin kappa light-chain gene immunoglobulin lambda light-chain gene immunoglobulin light-chain restrictions 100 102 3 02/28/23 20230201 NES 230201 Abbreviations DLBCL diffuse large B-cell lymphoma FISH fluorescence in situ hybridization FL follicular lymphoma G-banding Giemsa banding IGK immunoglobulin kappa IGL immunoglobulin lambda PCR polymerase chain reaction Detection of immunoglobulin light-chain restriction is important in the diagnosis of B-cell non-Hodgkin lymphoma. Here, we describe a rare case of B-cell lymphomas showing discordant light-chain expression (i.e., IGK light-chain restriction in the lymph node preceding IGL light-chain restriction in the bone marrow). [Extracted from the article]

Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations. Translocation is one of the structural chromosomal aberrations where exchange of genetic material between the chromosomes is seen because of two breakpoints. On the basis of involvement of type of chromosome, two different types of translocation are defined. A case of two-year-old girl child with the history of developmental delay, generalised hypotonia and recurrent infections was reported whose cytogenetic analysis showed additional genetic material on ‘p’ arm of one chromosome 6. To find out the additional genetic material, parental chromosomal study was done which revealed balanced translocation between ‘q’ arm of chromosome 10 and ‘p’ arm of chromosome 6 and normal chromosomal pattern in father. Balanced translocation in mother gave rise to formation of derivative chromosome 6 which was transmitted to daughter causing partial trisomy of 10q and partial monosomy of 6p. This gain and loss of genetic material could be the cause of phenotypic features. In the current case, karyotyping was an investigation of choice and offering genetic counselling regarding prenatal diagnosis in future pregnancy was a thoughtful step.

Chromosomal aberrations such as parental balanced translocation contribute to a significant proportion of recurrent pregnancy losses. These have extreme genetic implications on the foetus which can either cause physical and/or mental retardation or early death. In this study, we report a unique clinical case of a couple with three consecutive pregnancy losses and we aim to determine the genetic abnormalities causing the miscarriages. Conventional cytogenetic and molecular genetic analysis were performed on the products of conception as well as for the parents. Chromosomal analysis was performed based on the ISCN 2016 guidelines. This was followed by Chromosomal microarray analysis carried out using ISCA consortium probe set (8X60K). Genetic testing for the 1st product of conception was not performed. However, the 2nd and 3rd products of conception indicated an autosomal trisomy 22 and a 3.7 Mb deletion of 2p (cytoband p25.3) along with 13.6 Mb duplication of 16p (cytoband p13.3p13.12), respectively. The paternal karyotype was normal but mother showed a balanced translocation 46,XX,t(2;16)(p25.3;p13.3). This was parallel to the products of conception microarray findings, unbalanced chromosomal abnormality in the foetus. Balanced translocation carriers are susceptible for meiotic nondisjunction processes and early detection of genetic anomalies can be informative to parents trying to conceive. Genetic analysis of the abortus after the 1st loss can be helpful to understand the cause of miscarriage. A combined approach with microarray and karyotyping of the products of conception can be important to determine the specific aberrations in the foetal chromosomes leading to abortion. [ABSTRACT FROM AUTHOR]

Background: Myelodysplastic syndromes (MDSs) are a heterogeneous group of clonal hematopoietic neoplasms, roughly half of which harbor cytogenetic abnormalities with diagnostic, prognostic, and therapeutic significance. Fluorescence in situ hybridization (FISH) for the most commonly seen abnormalities (5/5q, –7/7q, +8, and –20/20q–) is routinely performed alongside conventional cytogenetics (CC) in the evaluation of suspected MDS despite conflicting reports of its relative contribution compared to CC alone.Objectives: To assess the additional diagnostic and prognostic value of performing concurrent FISH versus CC alone in cases of suspected MDS.Materials and Methods: A total of 127 bone marrow samples submitted to our cytogenetic laboratory with a presumptive diagnosis of MDS were evaluated by concurrent CC and an MDS FISH panel.Results: CC was used as the gold standard method with 100% sensitivity in detecting suspected MDS-associated cytogenetic abnormalities. FISH alone had a sensitivity of 76%, whereas CC alone achieved a sensitivity of 97%. The addition of FISH did not change the diagnosis nor change the Revised International Prognostic Scoring System score in any patient. Moreover, in 12 cases identified as positive by both CC and FISH, CC identified multiple chromosomal aberrations of clinical significance not interrogated by the FISH probe panel.Conclusion: CC alone is sufficiently sensitive in detecting suspected MDS-associated cytogenetic abnormalities that influence clinical decision-making. Routine FISH testing does not provide a significant increase in test sensitivity when an adequate karyotype is obtained. Therefore, FISH testing is best reserved for suspected MDS cases lacking sufficient metaphases.

Pentasomy X is a rare syndrome with variable phenotype, that affects females with characteristic clinical features such as severe mental retardation with delayed speech, short stature, facial dimorphism, osseous, articular/skeletal/limb abnormalities, and congenital heart defects. Clinical course of the disease seems to be adverse as there has been no evidence of life till adulthood. This case study was of one-month-old girl referred for cytogenetic evaluation that revealed 49,XXXXX karyotype, indicating Pentasomy X syndrome. Studies have mentioned meiotic successive nondisjunction errors in maternal meiosis or combined maternal and paternal origin as a mechanism for Pentasomy X formation which has been supported by genotyping studies using Short Tandem Repeats (STR) X-linked polymorphic markers. An early restricted fetal growth and movements along with increased nuchal fold in pregnancy could suggest referral to prenatal karyotyping studies. Prenatal diagnosis of Pentasomy X syndrome is a challenge due to absence of advanced maternal age and maternal screening markers along with subtle nonspecific Ultrasonography (USG) abnormalities that are detected late in the pregnancy. Hence, there is a strong need of Non Invasive Prenatal Screening (NIPS) with clinical coverage of sex chromosomes in routine pregnancy management along with 3D high resolution USG evaluation as a mandatory workup to rule out Pentasomy X irrespective of advanced maternal age. Management frame work through genetic counseling help patients to adapt to the challenging diagnosis and early interventions for patient management.

Background: The intersection of ART and molecular genetic science is fast growing. It is now possible to utilize the advances in molecular genetics for clinical application to detect chromosomal aberrations in preimplanting embryos. As molecular genetic techniques have improved, it is now possible to test the complete characterization of human genome variation with reasonable accuracy. In this article, we have tried to summarize the common current indications of chromosomal analysis of preimplanting embryos in couples having various chromosomal dominant or chromosomal recessive heritable disorders leading to the birth of a new born baby with chromosomal aberrations or leading to repeated miscarriage. Conclusion: The currently available techniques of embryo biopsy have their advantages and shortcomings. Today, preimplantation genetic testing to diagnose a euploid embryo is widely used in clinical practice in couples undergoing IVF ET treatment. By eliminating the transfer of aneuploid embryos, the pregnancy rate improves per embryo transfer and it shortens the time of conception from the start of IVF treatment. We have also discussed the current scenario of the place of PGT-A for routine use in IVF treatment procedure in view of the possible risk of losing euploid embryos due to the shortcoming of the embryo biopsy procedure. [ABSTRACT FROM AUTHOR]

This study investigated the potential genotoxic effects of the fungicide Tango® Super using methods of conventional cytogenetic analysis, fluorescence in situ hybridization (FISH) and detection of DNA fragmentation in bovine lymphocytes. After exposure of two donor cell cultures to several concentrations of fungicide (0.5, 3.0 and 15.0 mg.ml-1 for conventional cytogenetic analysis; 0.5 and 3.0 mg.ml-1 for FISH) we detected the insignificant occurrence of chromosome and chromatid breakages. In both donors we observed a significant decrease in mitotic index (MI) percentage with increasing concentrations of fungicide (P < 0.01; P < 0.001), which indicated a cytotoxic effect of the preparation. Electrophoretic analysis of DNA fragmentation in lymphocytes exposed to increasing concentrations (0.5; 1.5; 3.0; 6.0 and 15.0 mg.ml-1) of this preparation showed its ability to induce formation of fragments, which is a characteristic manifestation of the last stage of apoptosis.

Hematopoiesis is maintained throughout life from the hematopoietic stem cell niche in which hematopoietic stem cells and lineage-specific hematopoietic progenitors (HSPCs) reside and regulate hematopoiesis. Meanwhile, HSPCs behavior is modulated by both cell intrinsic (e.g., transcriptional factors) and cell extrinsic (e.g., cytokines) factors. Dysregulation of these factors can alter HSPCs function, leading to disrupted hematopoiesis, cellular changes, and subsequent hematological diseases and malignancies. Moreover, it has been reported that chromosomal aberration (CA) in HSPCs following exposure to carcinogenic or genotoxic agents can initiate leukemia stem cells (LSCs) formation which lays a fundamental mechanism in leukemogenesis. Despite reported studies concerning the chromosomal integrity in HSPCs, CA analysis in lineage-specific HSPCs remains scarce. This indicates a need for a laboratory technique that allows the study of CA in specific HSPCs subpopulations comprising differential hematopoietic lineages. Thus, this chapter focuses on the structural (clastogenicity) and numerical (aneugenicity) form of CA analysis in lineage-specific HSPCs comprised of myeloid, erythroid and lymphoid lineages.In this protocol, we describe how to perform CA analysis in lineage-specific HSPCs derived from freshly isolated mouse bone marrow cells (MBMCs) using the combined techniques of colony-forming unit (CFU) and karyotyping. Prior to CA analysis, lineage-specific HSPCs for myeloid, erythroid, and lymphoid were enriched through colony-forming unit (CFU) assay. CFU assay assesses the proliferative ability and differentiation potential of an individual HSPC within a sample. About 6 to 14 days of cultures are required depending on the type of HSPCs lineage. The optimal duration is crucial to achieve sufficient colony growth that is needed for accurate CFU analysis via morphological identification and colony counting. Then, the CA focusing on clastogenicity and aneugenicity anomalies in respective HSPCs lineage for myeloid, erythroid and Pre-B lymphoid were investigated. The resulted karyotypes were classified according to the types of CA known as Robertsonian (Rb) translocation, hyperploidy or complex. We believe our protocol offers a significant contribution to be utilized as a reference method for chromosomal analysis in lineage-specific HSPCs subpopulations., (© 2023. Springer Science+Business Media, LLC.)

Down syndrome (DS) and other genetic conditions have been reported to co-occur in the same person. This study sought to examine the genetic evaluation beyond chromosome analysis of individuals with DS at one DS specialty clinic. Retrospective chart review of genetic testing performed beyond chromosome analysis, the indication for the genetic testing, and the result of the genetic testing from the electronic health record was performed. Demographic information was collected and summary statistics, including mean and frequency, were calculated. The charts of 637 individuals with DS were reviewed. Overall, 146 genetic tests in addition to routine chromosome analysis were performed on 92 individuals with DS. Tests included chromosomal microarray, gene panels, and whole exome sequencing. Tests were performed for the indication of: autism spectrum disorder, celiac disease, dementia, hematologic diseases, and others. Eleven individuals with DS were found to have a second genetic diagnosis. Individuals with DS in one multidisciplinary clinic for DS had a variety of genetic tests beyond chromosomes completed, for varied indications, and with some abnormal results leading to additional diagnoses. Additional genetic testing beyond chromosome analysis is a reasonable consideration for patients with DS who have features suggestive of a secondary diagnosis., (© 2023 Wiley Periodicals LLC.)

Objectives: This retrospective study was undertaken to examine fetuses with dilated cavum septi pellucidi (CSP) as an isolated finding and to identify factors impacting postnatal outcomes.Study Design: Fully documented cases of dilated CSP as a sole prenatal defect were selected for study. Recorded data included serial sonographic examinations, fetal MRI studies, chromosomal testing, screening for infection, and postnatal follow-up. Fetal subjects were further stratified by gender, gestational age at diagnosis (<28 w or ≥28 w), CSP width at diagnosis (<10 mm or ≥10 mm), evolution at term (persistent vs non-persistent CSP), and postnatal MRI diagnosis (presence/absence of CSP cyst). Chi-square or Fisher's exact test (as appropriate) was used to compare categorical variables and patient groups.Results: A total of 48 fetuses met our inclusion criteria, none exhibiting chromosomal abnormalities. Six (12.5%) of these 48 were subsequently diagnosed with neurodevelopmental delays. However, such delays were unrelated to any categorical variable listed above (p > 0.05).Conclusions: Dilated CSP as an isolated prenatal finding by ultrasound or MRI carries a low risk of chromosomal abnormalities but a high risk of neurodevelopmental delay. These perils should be adequately conveyed to the parents of such infants. [ABSTRACT FROM AUTHOR]

This case study was of one-month-old girl referred for cytogenetic evaluation that revealed 49,XXXXX karyotype, indicating Pentasomy X syndrome. The pathogenesis of Pentasomy X syndrome has been hypothesised to be due to successive nondisjunction of the meiotic divisions. Prenatal diagnosis of Pentasomy X syndrome is a challenge due to absence of advanced maternal age and maternal screening markers along with subtle nonspecific Ultrasonography (USG) abnormalities that are detected late in the pregnancy. The described clinical features in literature for Pentasomy X include severe mental retardation with delayed speech, short stature, facial dimorphism's, osseous and articular abnormalities, congenital heart defects, and skeletal/limb abnormalities [3]. [Extracted from the article]

Triploidia este o anomalie cromosomică numerică, caracterizată prin prezenţa a trei seturi haploide de cromosomi. Incidenţa triploidiei este dificil de evaluat, deoarece de obicei produce avort spontan în primul trimestru de sarcină. Incidenţa estimată a triploidiei la 20 de săptămâni de gestaţie este de 1/250.000 sarcini. În acest articol prezentăm patru cazuri de triploidie diagnosticate in perioada 2003-2013 în Departamentul de Diagnostic Prenatal al Maternităţii “Cuza Vodă” Iaşi, România, toate fiind identificate pe parcursul anului 2013. Analiza cazurilor patologice identificate în ultimii 11 ani prin diagnostic prenatal a arătat că triploidia reprezintă doar 5,7% din anomaliile cromosomice numerice, dar raportat la anul 2013 cele patru cazuri de triploidie reprezintă 36% din anomaliile cromosomice numerice. În toate cazurile analiza cromosomică a fost efectuată după descoperirea prin ecografie fetală a diverse anomalii congenitale. În toate cazurile a fost identificată o întârziere de creştere intrauterină, dar nu au fost depistate modificări placentare. De asemenea, au fost găsite anomalii ale membrelor, anomalii congenitale de cord şi unele aspecte dismorfice. Această serie de cazuri demonstrează faptul că triploidia poate evolua până în al doilea trimestru de sarcină şi că aspectele ecografice sunt eterogene, ceea ce generează unele dificultăţi de diagnostic. De aceea, identificarea la 18-22 de săptămâni de sarcină a unui complex de anomalii morfologice fetale trebuie să reprezinte un motiv important pentru efectuarea amniocentezei şi a analizei cromosomice

Highlights • Whole body X-ray exposure induced severe alterations in hepatic and renal tissues. • X-ray exposure caused excessive free radical formation leading to oxidative stress. • Aloe vera treatment to irradiated mice improved hepatic and renal functions. • Aloe vera mitigated X-ray irradiation induced chromosomal aberrations in liver. • Aloe vera administration reduced irradiation induced apoptosis. Abstract The present study was aimed to explore the protective role of Aloe vera gel extract against hepatic and renal damage caused by X-ray exposure to mice. Male balb/c mice were divided into four groups: control, Aloe vera gel extract [AV] (50 mg/ kg b.w on alternate days for 30 days), X-ray (2 Gy) and AV + X-ray. X-ray irradiation enhanced the serum levels of liver function indices and chromosomal abnormalities in liver. Kidney function markers were found to be deranged and were accompanied by reduced glomerular filtration rate indicating renal dysfunction. Irradiation caused histopathological and biochemical alterations in both tissues which was associated with enhanced reactive oxygen species (ROS), lipid peroxidation (LPO) levels, lactate dehydrogenase (LDH) activity and enhanced apoptosis as revealed by TUNEL assay and DNA fragmentation. The administration of Aloe vera gel extract to X-ray exposed animals significantly improved their hepatic and renal function parameters which were associated with a reduction in ROS/LPO levels, LDH activity and chromosomal abnormalities as compared to their irradiated counterparts. In vitro assays revealed effective radical scavenging ability of Aloe vera gel extract, which may be linked to its potential in exhibiting antioxidant effects in in vivo conditions. This data suggested that Aloe vera may serve to boost the antioxidant system, thus providing protection against hepatic and renal damage caused by X-ray. [ABSTRACT FROM AUTHOR]

We report the case of a 24-year-old Japanese woman, gravida 2, para 1, who became pregnant spontaneously. At 24 weeks of gestation, her fetus was found to have various abnormalities, including holoprosencephaly, congenital heart disease and severe fetal growth restriction, and she was referred to our hospital. From these findings, the fetus was suspected of having a chromosomal aberration, in particular, trisomy 13, and after genetic counseling, amniocentesis for chromosomal analysis was performed. Although the results of fluorescent in situ hybridization (FISH) analysis showed no numeric abnormalities, G-banding analysis revealed a ring chromosome 13; 46, XX, r (13) (p13q32). At 41 weeks of gestation, she delivered a female baby weighing 2240 g with good condition. The respiratory status of the neonate was stable, and she was discharged 30 days after birth. Ring chromosomes are rare chromosomal aberrations, and obstetricians should recognize that ring chromosomes cannot be detected solely by FISH analysis and require G-banding analysis and that information on the ring breakpoint is needed to counsel the parents regarding the fetal and neonatal prognosis. [ABSTRACT FROM AUTHOR]

Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel’s laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Presently, whole exome sequencing (WES) has largely contributed in identifying the new disease-causing genes and represented a significant breakthrough in the field of human genetics and this technique uses high throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual’s genome. Apart from this next generation sequencing and whole genome sequencing also contribute for identifying the disease marker. From this review, the suggestion was to perform the WES is DS children to identify the marker region. [ABSTRACT FROM AUTHOR]

Aim. To characterize a superficial phenotype and to make a cytogenetic analysis of bone marrow (BM) mesenchymal stromal cells (MSC) from donors. Materials and methods. The study analyzed BM samples from 11 healthy donors. The phenotype of obtained MSC was analyzed using cytofluorometry. Chromosomal analysis was carried out at the first-second passage. Results. The superficial phenotype of MSC was steady-state during 8 passages and conformed to the worldwide standard for this cell population. The marker NGFR+ was detectable only during the first 2 passages and the count of CD146+ cells was decreased to 50% as consecutive passages were carried out, which confirms that MSCs have lost their neural and endothelial differentiation capacity. MSCs are stably able to differentiate only into the mesenchymal lineage. The detection of chromosomal rearrangements in MSCs at different stages of cultivation revealed no clonal rearrangements in any case. However, chromosomal aberrations were found 3-10% of metaphases at the first and second passages, which may be associated with chromosome instability in primary cultures. Conclusion. The pooled data suggest that the analyzed MSCs meet the conventional worldwide standards.

Philadelphia chromosome (Ph) is found in more than 95% of Chronic Myeloid Leukaemia (CML) patients arising from the reciprocal translocation of chromosomes 9 and 22 which results in the formation of chimeric fusion gene BCR-ABL. This paved the path for targeted gene therapy in CML and thus plays a pivotal role in diagnosis and prognosis. Fluorescence in situ hybridization (FISH) is a rapid and reliable technique inmolecular cytogenetics to detect BCR-ABL fusion signal in both interphase and metaphase spreads of bonemarrow sample. Peripheral blood white cells as a surrogate for bonemarrow have been suggested by a fewstudies. The objective of the studywas to evaluate FISHon peripheral blood specimen as a rapid and reliablemethod to quantify Ph positive cells in a patient with Chronic Myeloid Leukaemia. FISH was performed on interphase nuclei from cultured peripheral blood sample of the patient using BCR/ABL Translocation, Dual fusion probe. Chromosomal analysis was performed by GTG banding technique. FISH and karyotyping confirmed the presence of reciprocal translocation t (9; 12) (q34.1; q11.2). Our results confirmed that FISH technique is a rapid, sensitive, quantitative technique which can be used for the evaluation of CML using peripheral blood. FISH helps in the detection of minimal residual disease and disease recurrence with small percentage of abnormal cells. In our experience, this situation is usually associatedwith very high WBC count which can result in increase in the percentage of Phpositive cells. [ABSTRACT FROM AUTHOR]

Mental Retardation (MR) is a major complex medical and health problem affecting at least 3-4 percent of world total population. Genetic causes at both the chromosomal and molecular (DNA) level accounts for around 50 per cent of all MR cases. To investigate the prevalence of chromosomal abnormalities among mental retarded school age children of Bushehr, 100 mentally retarded school age pupils attending five special training schools aged 10-18 years old were studied using standard Q & G banding techniques. Karyotypes were prepared according to ISCN nomenclature at the 350 bands level. From 96 successfully karyotyped pupils, 25 chomosomal abnormalities were identified in which trisomy 21 was the most frequent abnormality (19 cases). The other observed abnormalities were inversion 9q (two cases), 46,XX+M(one case), 47,XXX/46,XX (one case), 46,XY+15/13 (one case) and one case of 47,XXY/46,XY. In conclusion, the overall frequency of chromosomal abnormalities among mental retarded children in Bushehr/Iran is similar to the majority of the West European and Middle Eastern countries and should attract similar health and medical attention & preventive approaches.