2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

BACKGROUND: Genome-wide screening of patients with mental retardation using Array Comparative Genomic Hybridization (array-CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. We report two...

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Hlavní autoři: Jaillard, Sylvie, Dubourg, Christèle, Gérard-Blanluet, Marion, Delahaye, Andrée, Pasquier, Laurent, Dupont, Céline, Henry, Catherine, Tabet, Anne-Claude, Lucas, Josette, Aboura, Azzedine, David, Véronique, Benzacken, Brigitte, Odent, Sylvie, Pipiras, Eva
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3236717/
https://ncbi.nlm.nih.gov/pubmed/18812405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.058156
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