De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature-Reference-Cited by-同舟云学术

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

Published:2012-08 Issue:8-9 Volume:55 Page:490-497
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Becker Kerstin,Di Donato Nataliya,Holder-Espinasse Muriel,Andrieux Joris,Cuisset Jean-Marie,Vallée Louis,Plessis Ghislaine,Jean Nolwenn,Delobel Bruno,Thuresson Ann-Charlotte,Annerén Göran,Ravn Kirstine,Tümer Zeynep,Tinschert Sigrid,Schrock Evelin,Jønch Aia Elise,Hackmann Karl

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference18 articles.

1. Proximal interstitial 6q deletion: a recognizable syndrome;Kumar;Am. J. Med. Genet.,1997

2. New insights into the phenotypes of 6q deletions;Hopkin;Am. J. Med. Genet.,1997

3. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14;Van Esch;J. Med. Genet.,2010

4. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms;Lespinasse;Eur. J. Med. Genet.,2009

5. Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype;Wentzel;Mol. Syndromol.,2010

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