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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

4 Oct 2010

Abstract excerpt

BACKGROUND: Congenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesised that some cases of non-isolated CDH are caused by novel genomic disorders. METHODS AND RESULTS: In a cohort of >12, 000 patients referred for array comparative genomic hybridisation testing, we identified three individuals-two of whom had CDH--with deletions involving a ∼2.3 Mb...

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PMID: 20921022
DOI: 10.1136/jmg.2009.075903

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