Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Date publication

mars 2017

Journal

The Journal of pediatrics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence

Tous les auteurs :
Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/28284480

Résumé

To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we analyzed copy number variations (CNVs) in patients with corpus callosum abnormality/intellectual disability STUDY DESIGN: We screened 149 patients with corpus callosum abnormality/intellectual disability using Illumina SNP arrays.

Mots clés

CNV, SNP array, agenesis of corpus callosum, chromosomal microarray, corpus callosum, dysgenesis of corpus callosum

Référence

J. Pediatr.. 2017 Mar;: