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

Gareth Baynam, Jack Goldblatt, Ian Walpole

    Research output: Contribution to journalReview article

    21 Citations (Scopus)

    Abstract

    Cornelia de Lange syndrome (CAS) 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 CAS and suggest a novel candidate gene for CdLS-Tankyrase 1. (C) 2008 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)1505-1570
    JournalAmerican Journal of Medical Genetics Part A
    Volume146A
    Issue number12
    DOIs
    Publication statusPublished - 2008

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