Genetic analysis of fragile X-syndrome.
Fragile X-syndrome is the most common inherited cause of mental retardation. The key clinical features of the fragile X-syndrome in males are mental retardation, a long face with large everted ears and large testes. The disorder is associated with a visible fragile site at Xq27.3 at FMR-1 loucs with the amplification of (CGC) n repeat sequence. The early diagnosis of affected individuals are carriers who are not aware of their high risk of having an affected child is important for proper management and counselling.
Badaruddoza
Section of Genetics, Department of Zoology, Aligarh Muslim University, Aligarh 202 002.
Shadab
G G
GG
Afzal
M
M
Ahmad
M D
MD
D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007194:India / Q000453:epidemiology; D008297:Male; D011379:Prognosis