Article
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Journal of medical genetics - 1 Apr 2009
Hannes F D, Sharp A J, Mefford H C, de Ravel T, Ruivenkamp C A, Breuning M H, Fryns J-P, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam R C, Cooper G M, Regan R, Knight S J L, Eichler E E, Vermeesch J R
Abstract excerpt
BACKGROUND: Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. METHODS AND RESULTS: A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was...
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