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Review
. 1998 Jul-Aug;65(4):513-8.
doi: 10.1007/BF02730883.

Fragile X syndrome

A E Donnenfeld  1
Affiliations
Review

Fragile X syndrome

A E Donnenfeld. Indian J Pediatr. 1998 Jul-Aug.

Abstract

Fragile X syndrome is the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. The female carrier rate in the general population is estimated to be 1/600. A fragile site at the distal long arm of the X chromosome (Xq 27.3) is the hallmark cytogenetic feature of the syndrome. Clinical features include physical as well as cognitive and neuropsychological deficits. Although fragile X syndrome follows an X-linked pattern of inheritance (which explains the predominance of affected males), females can also be affected. Many inconsistencies exist between the genetic inheritance pattern of fragile X and traditional Mendelian inheritance tenets of most X-linked diseases. Due to recent molecular advances, our understanding of the perplexing genetic issues surrounding fragile X syndrome has grown and diagnostic techniques have become both reliable and readily available.

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