Context Any deviation of the normal prenatal development right from gametogenesis may give rise to condition now known as disorders of sex development. XY gonadal dysgenesis is characterized by 46,XY chromosome complement with female phenotype and streak gonads. This study reports incidental finding of eight such cases. Aim To find out correlation between clinical findings and chromosome complement in cases presenting with menstrual dysfunction. Settings and Design Prospective, cross-sectional study conducted in a tertiary healthcare center. Materials and Methods Chromosomes were studied after planting and harvesting through conventional short-term culture method. Attempt was made to correlate the cytogenetic findings with other clinical findings of cases. Statistical Analysis Nil. Results Hundred cases of menstrual dysfunction referred from other clinical departments were studied. Abnormal chromosomes were obtained in total ten cases where 46XY disorder of sex development was observed in eight cases and two-cases had Turner syndrome. It was observed that these cases belonged to primary and secondary amenorrhea only. There were six cases where the chromosomal complement was 46,XY and two cases with mosaicism of 46,XY/45,X. Patients with hypomenorrhea and oligomenorrhea had normal chromosomal findings. Conclusions It is possible to have normal looking females with normal development of secondary sex characters to have abnormal chromosome complement. Cytogenetic testing becomes inevitable in such cases. If possible, molecular diagnostic methods also can be employed for detailed description of derangement.
Background: Turner syndrome (TS) is the most common chromosomal abnormality reported in the females. Objective of this retrospective study was to determine the frequency of turner Syndrome and its various cytogenetic types in samples suspected to be of turner syndrome, received in the Department of Cytogenetics, Metropolis Healthcare laboratory, Mumbai, Maharashtra, India. Methods: The current study was performed on 935 clinically suspected samples with Turner Syndrome within the age group of 01-16 years. Peripheral blood (2-3 ml) in Sodium heparin Vacutainers was collected from all the patients, the cultures were set & analysed by GTG–banding at 450-550 band level Results were reported as per the guidelines of the International System for Human Cytogenomic Nomenclature (ISCN) and The College of American Pathologists (CAP) and National Accreditation Board for Testing and Calibration Laboratories (NABL).Results: In our study, out of the total 935 samples referred to Metropolis Healthcare Ltd, about 348 had cytogenetically turner or Turner variant findings. Further, out of 348 cases, 69 cases were detected to have presence of single X chromosome (19.83%), mosaic pattern in 116 cases (33.33%), presence of Y chromosome in 63 cases (18.10%) polymorphic variation in 58 cases (16.67%), presence of only isochromosome Xq in 9 cases (2.59%) and 33 cases (9.48%) with other or additional abnormalities. Conclusions: The cytogenetic confirmation and pattern of chromosomal aberration is very important as early detection may help to improve the quality of life especially in patients with cytogenetically Turner variant pattern with presence of Y chromosome.
Background: Down syndrome or Trisomy 21 is a genetic condition involving the presence of extra copy of chromosome 21. It is the most common chromosomal abnormality within paediatric age group. The objective of our study was to determine the frequency of Down syndrome and its various cytogenetic types in cases with clinical suspicion of Down syndrome received at the Department of Cytogenetics, Metropolis Healthcare Limited, Mumbai, India.Methods: Our study was performed on peripheral blood (2-3 ml) collected in Sodium Heparin Vacutainers obtained from 714 patients with clinical suspicion of Down syndrome. All the samples were requested for GTG staining and banding, while the cultures were set and analysed by GTG–banding at 450-550 band level. The period of our study was from January-2015 to December-2016.Results: Out of 714 samples referred, about 657 showed trisomy of chromosome 21. While, out of 657 cases, 551 (83.87%) cases were detected with free trisomy, Robertsonian translocation in 52 cases (7.91%), Mosaic pattern in 16 cases (2.44%). Our study also recorded trisomy with additional polymorphic variation in 35 cases (5.33%) and 3 cases (0.46%) with additional abnormality.Conclusions: According to the extensive literature available which states that the clinical diagnosis of Down syndrome is relatively easy, it is the pattern of chromosomal aberration that is extremely important. Identification of this pattern will assist in the estimation of the possibility of recurrence risk while counselling the parents. Overall, it will benefit the couple to arrive at an informed decision and will eventually minimize the frequency of disease in the society. Moreover, it will also assist the close blood relatives to know their risk of having baby with Down syndrome. It is to be noted that since the study was performed in a tertiary care laboratory, the percentage of cytogenetic.
Background: Structural and numerical chromosomal aberrations contribute significantly to genetic disease. Unbalanced aberrations are associated with congenital anomalies, mental retardation and underdevelopment of secondary sexual characters while balanced structural chromosomal abnormalities contribute to an increased risk for infertility, bad obstetric history and chromosomally unbalanced offspring with multiple congenital abnormalities and intellectual impairment. Aim of the current study was to determine the prevalence and characterization of cytogenetic aberrations in 8445 cases referred during the years 2010-2013 for cytogenetic evaluation.Methods: Metaphase chromosomes from 72-hour blood lymphocyte culture were prepared for Giemsa-Trypsin-G banding. Characterization of marker chromosomes were done by M-FISH and subtle chromosomal aberrations were evaluated by targeted FISH using centromeric probes for chromosome 13,18,21, X and Y and loci specific probes for microdeletion syndromes and SRY gene.Results: Variant forms of trisomies i.e. partial trisomies were seen in cases with Edwards and Patau syndrome. Sex chromosomal abnormalities associated with puberty and reproductive problems were seen in cases with Turner syndrome, Klinefelter syndrome and also in females with primary amenorrhea. Autosomal reciprocal translocations were the most common chromosomal changes in couples with recurrent abortions. In order to increase the diagnostic yield and evaluate variations, FISH and m-FISH were additional tests done to characterize the genetic variations.Conclusions: Along with Karyotyping SRY, XIST, SHOX9 gene analysis and Y microdeletion analysis are also critial tests to assess the possibilities for normal development or assisted reproduction in individuals with sex chromosomal abnormalities.
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