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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.

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.
AuthorsGareth Baynam, Jack Goldblatt, Ian Walpole
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 12 Pg. 1565-70 (Jun 15 2008) ISSN: 1552-4833 [Electronic] United States
PMID18470924 (Publication Type: Case Reports, Journal Article, Review)
Copyright2008 Wiley-Liss, Inc.
Chemical References
  • Tankyrases
  • TNKS protein, human
Topics
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 8 (genetics)
  • De Lange Syndrome (diagnosis, genetics)
  • Hernia, Diaphragmatic (diagnosis, genetics)
  • Hernias, Diaphragmatic, Congenital
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Tankyrases (genetics)

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