Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Rousseau, François; Heitz, Dominique; Biancalana, Valérie; Blumenfeld, Sandra; Kretz, Christine; Boué, Joëlle; Tommerup, Niels; Van Der Hagen, Carl; DeLozier-Blanchet, C.D.; Croquette, Marie‐Françoise; Gilgenkrantz, S; Jalbert, P; Voelckel, Marie‐Antoinette; Oberlé, I.; Mandel, Jean‐Louis

doi:10.1056/nejm199112123252401

Public

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Published in New England Journal of Medicine • Dec 12, 1991

Authors:

François Rousseau

Dominique Heitz

Valérie Biancalana

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...

Subject

Fragile X syndrome

Genetics

Locus (genetics)

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