Article
Delineation of 15q13.3 microdeletions.
Clinical genetics - 1 Aug 2010
Masurel-Paulet A, Andrieux J, Callier P, Cuisset J M, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier M P, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit J M, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L
Abstract excerpt
The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5,...
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