Open Access2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Author(s) -
Sylvie Jaillard,
Christèle Dubourg,
Marion Gérard-Blanluet,
Andrée Delahaye,
Laurent Pasquier,
Céline Dupont,
Cathérine Henry,
AnneClaude Tabet,
Josette Lucas,
Azzedine Aboura,
Véronique David,
Brigitte Benzacken,
Sylvie Odent,
Eva Pipiras
Publication year - 2008
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmg.2008.058156
Subject(s) - genetics , haploinsufficiency , microdeletion syndrome , comparative genomic hybridization , biology , microcephaly , angelman syndrome , phenotype , ataxia , chromosome , gene , neuroscience
Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and presenting similar "pseudo-Angelman" phenotypes, including severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities.