Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

F, Rousseau; D, Heitz; V, Biancalana; S, Blumenfeld; C, Kretz; J, Boué; N, Tommerup; Der Hagen C, Van; C, DeLozier-Blanchet; MF, Croquette

doi:10.1056/nejm199112123252401

Public

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Shared by NobleBlocks on Dec 1, 1991 • 12:00 AM UTC

Authors:

Rousseau F

Heitz D

Biancalana V

Abstract

Background The fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome (in Xq27.3). Affected persons have both a full mutation and abnormal DNA methylation. Persons with a smaller increase ...

Discussions