Open AccessMicroduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
Author(s) -
Zhishuo Ou,
Jonathan S. Berg,
Hagith Yonath,
Victoria B. Enciso,
David T. Miller,
Jonathan Picker,
Tiffanee Lenzi,
Catherine E. Keegan,
V. Reid Sutton,
John W. Belmont,
A. Craig Chinault,
James R. Lupski,
Sau Wai Cheung,
Elizabeth Roeder,
Ankita Patel
Publication year - 2008
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1097/gim.0b013e31816b64c2
Subject(s) - non allelic homologous recombination , digeorge syndrome , genetics , comparative genomic hybridization , gene duplication , biology , chromosome , homologous chromosome , phenotype , recombination , gene , genetic recombination
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.
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