Biomedical Research

Background: Down’s syndrome is the most commonly encountered autosomal aneuploidy in the population involving chromosome 21. It is regarded as the most common genetic cause of intellectual disability in the world and is found to be associated with multiple risk factors. Objectives: The aim of our study was to observe the association of maternal age with cytogenetic variants of Down’s syndrome in North Indian population. Material and methods: The study was conducted in the cytogenetic laboratory of the Department of Anatomy, King George’s Medical University Uttar Pradesh, Lucknow. For the present study, peripheral blood samples were collected from 51 suspected patients of DS, of age group 0-10 years who were screened in Pediatrics Department, KGMU. Karyograms were prepared and evaluation was done. Results: Advanced maternal age was seen to be more closely associated with mosaic variant and least associated with translocation variant of Down’s syndrome.

Author(s): Kanchan Bisht, Rakesh K. Verma, Navneet Kumar, Shakal N. Singh, Baibhav Bhandari
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