Cytogenetic analysis of Down syndrome in Gujarat
Frenny Sheth1, Subhada Rao, Manisha Desai
1FRIGE House (Foundation for Research in Genetics and Endocrinology), Genetic Center, 15 Kapidwaj, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, India. frennysheth@hotmail.com
Abstract:
During 1995 to 2006, 382 cases clinically suspected for Down syndrome were investigated for cytogenetic study. Free trisomy 21 constituted 84.8% of cases, translocation 8.9%, mosaic 3.9% and in 2.4% cases regular T21 was associated with structural or numerical changes. Translocation was parentally inherited in 26.5% cases and maternal transmission was twice as common as paternal. Males were more pronounced to be affected than females in all the groups. 91.6% of DS babies were born to younger mothers (20-35 yr) compared to 8.4% in elderly mothers (>35 yr).
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