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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
Author(s) -
Baynam Gareth,
Goldblatt Jack,
Walpole Ian
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32095
Subject(s) - cornelia de lange syndrome , congenital diaphragmatic hernia , diaphragmatic hernia , diaphragmatic breathing , locus (genetics) , facial dysmorphism , etiology , biology , hernia , medicine , genetics , gene , pathology , general surgery , phenotype , pregnancy , fetus , alternative medicine
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. © 2008 Wiley‐Liss, Inc.