Prevalence of Down Syndrome in Western India: A Cytogenetic Study

Aim: To study the prevalence of Down syndrome by conventional chromosome analysis and G-banded karyotyping.
Materials and Methods: A retrospective analysis was performed on the case records of2750 paediatrics patients, of which 682 cases of confirmed Down syndrome was recorded by G-banding karyotyping.
Results: Non-disjunction was the most common type of abnormality followed by Robertsonian translocation and lastly mosaic in ratio of 92.2:7.0:0.73 respectively.
Conclusion: Results suggest that advanced maternal age is classic risk factor attributed to the incidences of Down syndrome.