Article
Genetic analysis of fragile X-syndrome.
Indian journal of medical sciences - 1 May 2000
Badaruddoza, Shadab G G, Afzal M, Ahmad M D
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.