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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients
Author(s) -
Jedraszak Guillaume,
Demeer Bénédicte,
MathieuDramard Michèle,
Andrieux Joris,
Receveur Aline,
Weber Astrid,
Maye Una,
Foulds Nicola,
Temple IK,
Crolla John,
AlexCordier MariePierre,
Sanlaville Damien,
Ewans Lisa,
Wilson Meredith,
Armstrong Ruth,
Clarkson Amanda,
Copin Henri,
Morin Gilles
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36882
Subject(s) - craniofacial , comparative genomic hybridization , phenotype , macrocephaly , microdeletion syndrome , frontal bossing , medicine , genetics , hypoplasia , biology , chromosome , anatomy , gene
Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21‐q11.23 deletion, with a size ranging from 2.6 to 6.8 Mb. The existence of a 20q11.2 microdeletion syndrome has been proposed, based on five previously reported cases that displayed anomalies of the extremities, intellectual disability, feeding difficulties, craniofacial dysmorphism and variable malformations. To further characterize this syndrome, we report on six new patients with 20q11.2 microdeletions diagnosed by whole‐genome array‐based comparative genomic hybridization. These patient reports more precisely refined the phenotype and narrowed the minimal critical region involved in this syndrome. Careful clinical assessment confirms the distinctive clinical phenotype. The craniofacial dysmorphism consists of high forehead, frontal bossing, enophthalmos, and midface hypoplasia. We have identified a 1.62 megabase minimal critical region involved in this syndrome encompassing three genes ‐ GDF5 , EPB41L1 , and SAMHD1 – which are strong candidates for different aspects of the phenotype. These results support that 20q11.2 microdeletion syndrome is a new contiguous gene deletion syndrome with a recognizable phenotype. © 2015 Wiley Periodicals, Inc.