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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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Genetic Services of Western Australia, Princess Margaret Hospital for Children, School of Paediatrics and Child Health, University of WA, Perth, Australia.


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.

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