Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

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...

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Main Authors: Jedraszak, Guillaume (Author), Demeer, Bénédicte (Author), Mathieu-Dramard, Michèle (Author), Andrieux, Joris (Author), Receveur, Aline (Author), Weber, Astrid (Author), Maye, Una (Author), Foulds, Nicola (Author), Temple, IK (Author), Crolla, John (Author), Alex-Cordier (Author), Sanlaville, Damien (Author), Ewans, Lisa (Author), Wilson, Meredith (Author), Armstrong, Ruth (Author), Clarkson, Amanda (Author), Copin, Henri (Author), Morin, Gilles (Author)
Format: Article
Language:English
Published: 2015-03.
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