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ISSN 2063-5346
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PREVALENCE OF CHROMOSOMAL ANOMALIES AND CORRELATION WITH INDICATIONSOF ULTRASOUND AND BIOCHEMICAL MARKERS IN HIGH-RISK PREGNANCIES

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Brijesh Kumar1*, Meenu Singh2, Rakesh Kumar Verma3, Navneet Kumar4
» doi: 10.48047/ecb/2023.12.4.259

Abstract

A total of 200 prenatal samples were analyzed for chromosomal abnormalities by Karyotype and FISH technique. In these samples, chromosomal anomalies were observed in 31 cases (15.5%); out of which 19 cases (61.29%) were numerical anomalies and 12 cases (38.70%) were of structural anomalies. In present study, 2 cases have been observed for structural unbalanced abnormality and 10 cases for structural balanced abnormality. Also, autosomal trisomies (11 cases) of chromosomes 13, 18 and 21; 3 monosomy X chromosome, 1 XXY, 1 XXX with 21ps+ and one triploidy XXX chromosome were identified in the study. In addition, mosaic cell lines XY/XY+21 and XX/XXXX chromosome complement were observed.

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