Article
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
Journal of medical genetics - 1 Dec 2011
El-Hattab Ayman W, Fang Ping, Jin Weihong, Hughes Jeffrey R, Gibson James B, Patel Gayle S, Grange Dorothy K, Manwaring Linda P, Patel Ankita, Stankiewicz Pawel, Cheung Sau Wai
Abstract excerpt
BACKGROUND: X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants. METHODS: Array CGH analysis was performed using chromosomal microarray with ∼105 000 oligonucleotides covering the entire genome. Confirmatory fluorescence in situ...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.