Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7885
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Type: Journal article
Title: Nonsyndromic x-linked mental retardation: where are the missing mutations?
Author: Ropers, H.
Hoeltzenbein, M.
Kalscheuer, V.
Yntema, H.
Hamel, B.
Fryns, J.
Chelly, J.
Partington, M.
Gecz, J.
Moraine, C.
Citation: Trends in Genetics, 2003; 19(6):316-320
Publisher: Elsevier Science London
Issue Date: 2003
ISSN: 0168-9525
Statement of
Responsibility: 
Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, Helger Yntema, Ben Hamel, Jean-Pierre Fryns, Jamel Chelly, Michael Partington, Jozef Gecz and Claude Moraine
Abstract: Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.
Keywords: Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; Phenotype; Mutation; Genetic Linkage
Rights: Crown copyright © 2003 Published by Elsevier Science Ltd.
RMID: 0020032088
DOI: 10.1016/S0168-9525(03)00113-6
Appears in Collections:Paediatrics publications

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