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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Published inJournal of medical genetics, vol. 49, no. 4, p. 270-276
Publication date2012
Abstract

Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele.

Keywords
  • Chromosome Duplication
  • Chromosomes, Human, Pair 1
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genome-Wide Association Study
  • Haplotypes
  • Hernia, Umbilical/genetics
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
Citation (ISO format)
RADHAKRISHNA, Uppala et al. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. In: Journal of medical genetics, 2012, vol. 49, n° 4, p. 270–276. doi: 10.1136/jmedgenet-2012-100826
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ISSN of the journal0022-2593
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