Abstract：
:CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Vissers LE,van Ravenswaaij CM,Admiraal R,Hurst JA,de Vries BB,Janssen IM,van der Vliet WA,Huys EH,de Jong PJ,Hamel BC,Schoenmakers EF,Brunner HG,Veltman JA,van Kessel AGdoi
10.1038/ng1407keywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
955-7issue
9eissn
1061-4036issn
1546-1718pii
ng1407journal_volume
36pub_type
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