Matches in SemOpenAlex for { <https://semopenalex.org/work/W2077686291> ?p ?o ?g. }
- W2077686291 endingPage "277" @default.
- W2077686291 startingPage "267" @default.
- W2077686291 abstract "PurposeGenomic 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.MethodsWe report the identification by array-comparative genomic hybridization of 14 individuals from eight families who harbor microduplications within the 22q11.2 region.ResultsWe have now observed a variety of microduplications, including the typical common ∼3-Mb microduplication, ∼1.5-Mb nested duplication, and smaller microduplications within and distal to the DiGeorge/velocardiofacial syndrome region, consistent with nonallelic homologous recombination using distinct low-copy repeats in the 22q11.2 DiGeorge/velocardiofacial syndrome region. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. The phenotypes seen in these individuals are generally mild and highly variable; familial transmission is frequently observed.ConclusionsThese findings highlight the unbiased ability of array-comparative genomic hybridization to identify genomic imbalances and further define the molecular etiology and clinical phenotypes seen in microduplication 22q11.2 syndrome. Our findings also further support that the 22q11.2 region is highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates." @default.
- W2077686291 created "2016-06-24" @default.
- W2077686291 creator A5000612576 @default.
- W2077686291 creator A5005773767 @default.
- W2077686291 creator A5006247268 @default.
- W2077686291 creator A5027443967 @default.
- W2077686291 creator A5028470777 @default.
- W2077686291 creator A5033360069 @default.
- W2077686291 creator A5047263678 @default.
- W2077686291 creator A5049273817 @default.
- W2077686291 creator A5054126909 @default.
- W2077686291 creator A5061084392 @default.
- W2077686291 creator A5063695357 @default.
- W2077686291 creator A5069445674 @default.
- W2077686291 creator A5076412646 @default.
- W2077686291 creator A5078027448 @default.
- W2077686291 creator A5082554849 @default.
- W2077686291 date "2008-04-01" @default.
- W2077686291 modified "2023-10-14" @default.
- W2077686291 title "Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes" @default.
- W2077686291 cites W1501608538 @default.
- W2077686291 cites W1506409704 @default.
- W2077686291 cites W1528560561 @default.
- W2077686291 cites W1557889858 @default.
- W2077686291 cites W1879001643 @default.
- W2077686291 cites W1965478935 @default.
- W2077686291 cites W1965573357 @default.
- W2077686291 cites W1967985978 @default.
- W2077686291 cites W1971886659 @default.
- W2077686291 cites W1971972795 @default.
- W2077686291 cites W1975430279 @default.
- W2077686291 cites W1978876953 @default.
- W2077686291 cites W1982977023 @default.
- W2077686291 cites W1986002337 @default.
- W2077686291 cites W1987342312 @default.
- W2077686291 cites W1996261165 @default.
- W2077686291 cites W1997647094 @default.
- W2077686291 cites W1999378653 @default.
- W2077686291 cites W2002772971 @default.
- W2077686291 cites W2002969945 @default.
- W2077686291 cites W2007207933 @default.
- W2077686291 cites W2012026008 @default.
- W2077686291 cites W2029965540 @default.
- W2077686291 cites W2032139198 @default.
- W2077686291 cites W2039310309 @default.
- W2077686291 cites W2041397277 @default.
- W2077686291 cites W2042524059 @default.
- W2077686291 cites W2042821490 @default.
- W2077686291 cites W2044110911 @default.
- W2077686291 cites W2044141056 @default.
- W2077686291 cites W2048482373 @default.
- W2077686291 cites W2048488265 @default.
- W2077686291 cites W2053559579 @default.
- W2077686291 cites W2055311846 @default.
- W2077686291 cites W2062811638 @default.
- W2077686291 cites W2064990689 @default.
- W2077686291 cites W2080292758 @default.
- W2077686291 cites W2088848325 @default.
- W2077686291 cites W2090572207 @default.
- W2077686291 cites W2106982327 @default.
- W2077686291 cites W2110169150 @default.
- W2077686291 cites W2111019868 @default.
- W2077686291 cites W2118555914 @default.
- W2077686291 cites W2124873881 @default.
- W2077686291 cites W2133607541 @default.
- W2077686291 cites W2138214675 @default.
- W2077686291 cites W2138827141 @default.
- W2077686291 cites W2140279570 @default.
- W2077686291 cites W2144899009 @default.
- W2077686291 cites W2155707112 @default.
- W2077686291 cites W2157304951 @default.
- W2077686291 cites W2159091117 @default.
- W2077686291 cites W2165554230 @default.
- W2077686291 cites W2253685848 @default.
- W2077686291 cites W2319033711 @default.
- W2077686291 doi "https://doi.org/10.1097/gim.0b013e31816b64c2" @default.
- W2077686291 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18414210" @default.
- W2077686291 hasPublicationYear "2008" @default.
- W2077686291 type Work @default.
- W2077686291 sameAs 2077686291 @default.
- W2077686291 citedByCount "165" @default.
- W2077686291 countsByYear W20776862912012 @default.
- W2077686291 countsByYear W20776862912013 @default.
- W2077686291 countsByYear W20776862912014 @default.
- W2077686291 countsByYear W20776862912015 @default.
- W2077686291 countsByYear W20776862912016 @default.
- W2077686291 countsByYear W20776862912017 @default.
- W2077686291 countsByYear W20776862912018 @default.
- W2077686291 countsByYear W20776862912019 @default.
- W2077686291 countsByYear W20776862912020 @default.
- W2077686291 countsByYear W20776862912021 @default.
- W2077686291 countsByYear W20776862912022 @default.
- W2077686291 countsByYear W20776862912023 @default.
- W2077686291 crossrefType "journal-article" @default.
- W2077686291 hasAuthorship W2077686291A5000612576 @default.
- W2077686291 hasAuthorship W2077686291A5005773767 @default.
- W2077686291 hasAuthorship W2077686291A5006247268 @default.
- W2077686291 hasAuthorship W2077686291A5027443967 @default.