© Kamla-Raj 2002                                                                             Int J Hum Genet, 2(2): 69-72 (2002)

Genetics of Fragile X Syndrome: A Systematic data from
the Indian Population

G.K. Chetan , K.R. Manjunatha, R. Arathi, P. Latha, S. Padma, G.V. Bhakar Rao, 
H.N. Venkatesh, V. Shobha*, S. Shobha*, S.R. Girimaji* and S. Sheshadri*

Departments of Human Genetics and Psychiatry*, National Institute of Mental Health and Neurosciences, Bangalore 560 029, Karnataka, India

Key words Fragile X syndrome; Indian population; frequency; diagnosis; genetic counselling.

ABSTRACT  Fragile X syndrome is the commonest form of X-linked disorder.  Its frequency among MR ranges from 6-9%.  There are a few reports available on Fragile X syndrome from Indian  population and we have screened for 300 MR subjects with 26 subjects (8.6%) showing Fragile X chromosome expression in 3-40% of lymphocyte cultures. Herein,  we have discussed frequency of Fragile X in the Indian population. Among the subject groups, there were 7 families with multiple sibs being affected and 3 mothers of the affected subjects showed carrier status. The combined data from the Indian population is presented in this study for better understanding of the population dynamics of this syndrome.

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