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Article

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2008

Ou Zhishuo, Berg Jonathan S, Yonath Hagith, Enciso Victoria B, Miller David T, Picker Jonathan, Lenzi Tiffanee, Keegan Catherine E, Sutton Vernon R, Belmont John, Chinault A Craig, Lupski James R, Cheung Sau Wai, Roeder Elizabeth, Patel Ankita

Abstract excerpt

PURPOSE: Genomic rearrangements of chromosome 22q11.2, including the microdeletion associated with DiGeorge/velocardiofacial syndrome, are mediated by nonallelic homologous recombination between region-specific low-copy repeats. To date, only a small number of patients with 22q11.2 microduplication have been identified. METHODS: We report the identification by array-comparative genomic hybridization of 14...

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PMID: 18414210
DOI: 10.1097/GIM.0b013e31816b64c2

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