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

G. Baynam; J. Goldblatt; I. Walpole

doi:10.1002/ajmg.a.32095

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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

Journal article

Peer reviewed

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

G. Baynam, J. Goldblatt and I. Walpole

American Journal of Medical Genetics Part A, Vol.146A(12), pp.1565-1570

2008

DOI: https://doi.org/10.1002/ajmg.a.32095

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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.

Details

Title: 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
Authors/Creators: G. Baynam (Author/Creator) - Princess Margaret Hospital for Children
J. Goldblatt (Author/Creator) - Princess Margaret Hospital for Children
I. Walpole (Author/Creator) - Princess Margaret Hospital for Children
Publication Details: American Journal of Medical Genetics Part A, Vol.146A(12), pp.1565-1570
Publisher: Wiley-Liss Inc
Identifiers: 991005543568907891
Copyright: © 2008 Wiley-Liss, Inc.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.186 Chromosome Disorders; 1.186.948 Chromosomal Abnormalities
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics