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- W2014724516 abstract "Abstract Objective Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH. Methodology We have designed a custom array targeted at genes and genomic loci associated with CDH. A total of 79 isolated CDH patients were screened using this targeted array. Results In three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22‐p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin‐B1 gene ( EFNB1 ), and mosaicism for trisomy 2. Conclusion Using this approach, we detected genomic imbalances associated with CDH in 3/79 (4%) isolated CDH patients. Our findings further implicate 8p deletions as being associated with CDH. The duplication of EFNB1 further highlights this gene as a potential candidate involved in diaphragm development. Mosaicism for trisomy 2 is a rare event and unlikely to be a common cause of CDH. Further investigations of isolated CDH patients by array CGH will continue to identify novel submicroscopic loci and refine genomic regions associated with CDH. Copyright © 2010 John Wiley & Sons, Ltd." @default.
- W2014724516 created "2016-06-24" @default.
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- W2014724516 date "2010-11-10" @default.
- W2014724516 modified "2023-10-16" @default.
- W2014724516 title "Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)" @default.
- W2014724516 cites W131539233 @default.
- W2014724516 cites W1906119900 @default.
- W2014724516 cites W1964001344 @default.
- W2014724516 cites W1971661615 @default.
- W2014724516 cites W1973726394 @default.
- W2014724516 cites W1976799621 @default.
- W2014724516 cites W1980488349 @default.
- W2014724516 cites W1982771934 @default.
- W2014724516 cites W1989457690 @default.
- W2014724516 cites W1989687656 @default.
- W2014724516 cites W1991387767 @default.
- W2014724516 cites W1994526225 @default.
- W2014724516 cites W1994599968 @default.
- W2014724516 cites W1996813404 @default.
- W2014724516 cites W1999894154 @default.
- W2014724516 cites W2002654818 @default.
- W2014724516 cites W2007546645 @default.
- W2014724516 cites W2010026203 @default.
- W2014724516 cites W2013840838 @default.
- W2014724516 cites W2014199331 @default.
- W2014724516 cites W2014584318 @default.
- W2014724516 cites W2016860874 @default.
- W2014724516 cites W2017461303 @default.
- W2014724516 cites W2023097863 @default.
- W2014724516 cites W2023943103 @default.
- W2014724516 cites W2024685575 @default.
- W2014724516 cites W2024846809 @default.
- W2014724516 cites W2025422385 @default.
- W2014724516 cites W2027166060 @default.
- W2014724516 cites W2030031590 @default.
- W2014724516 cites W2031095651 @default.
- W2014724516 cites W2035118597 @default.
- W2014724516 cites W2038505325 @default.
- W2014724516 cites W2043713881 @default.
- W2014724516 cites W2045694963 @default.
- W2014724516 cites W2046801356 @default.
- W2014724516 cites W2047295898 @default.
- W2014724516 cites W2047725245 @default.
- W2014724516 cites W2053877381 @default.
- W2014724516 cites W2054672459 @default.
- W2014724516 cites W2056954615 @default.
- W2014724516 cites W2059020851 @default.
- W2014724516 cites W2062625389 @default.
- W2014724516 cites W2069115582 @default.
- W2014724516 cites W2078930878 @default.
- W2014724516 cites W2079829377 @default.
- W2014724516 cites W2079854362 @default.
- W2014724516 cites W2081389237 @default.
- W2014724516 cites W2084078286 @default.
- W2014724516 cites W2090482442 @default.
- W2014724516 cites W2091704184 @default.
- W2014724516 cites W2091929104 @default.
- W2014724516 cites W2103193176 @default.
- W2014724516 cites W2106720481 @default.
- W2014724516 cites W2106748012 @default.
- W2014724516 cites W2112528351 @default.
- W2014724516 cites W2120264968 @default.
- W2014724516 cites W2124328786 @default.
- W2014724516 cites W2128265565 @default.
- W2014724516 cites W2131587128 @default.
- W2014724516 cites W2134792095 @default.
- W2014724516 cites W2140491078 @default.
- W2014724516 cites W2140969130 @default.
- W2014724516 cites W2141548432 @default.
- W2014724516 cites W2141568746 @default.
- W2014724516 cites W2146871237 @default.
- W2014724516 cites W2147185796 @default.
- W2014724516 cites W2147543192 @default.
- W2014724516 cites W2147623970 @default.
- W2014724516 cites W2160030814 @default.
- W2014724516 cites W2161613003 @default.
- W2014724516 cites W2164971036 @default.
- W2014724516 cites W2166143246 @default.
- W2014724516 cites W2168893192 @default.
- W2014724516 cites W2169118425 @default.
- W2014724516 doi "https://doi.org/10.1002/pd.2651" @default.
- W2014724516 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21064195" @default.
- W2014724516 hasPublicationYear "2010" @default.
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