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Am J Med Genet A. 2008 Jun 15;146A(12):1565-70. doi: 10.1002/ajmg.a.32095.

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

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1
Genetic Services of Western Australia, Princess Margaret Hospital for Children, School of Paediatrics and Child Health, University of WA, Perth, Australia. gareth.baynam@health.wa.gov.au

Abstract

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS-Tankyrase 1.

PMID:
18470924
DOI:
10.1002/ajmg.a.32095
[Indexed for MEDLINE]
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