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

Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; Sun, Celi; Maiti, Amit K; Gagnebin, Maryline; Sloan Bena, Frédérique; Newkirk, Heather L; Sharp, Andrew James; Everman, David B; Murray, Jeffrey C; Schwartz, Charles E; Antonarakis, Stylianos; Butler, Merlin G

doi:10.1136/jmedgenet-2012-100826

Professional article

English

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

ContributorsRadhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; Sun, Celi; Maiti, Amit K; Gagnebin, Maryline; Sloan Bena, Frédérique; Newkirk, Heather L; Sharp, Andrew James; Everman, David B; Murray, Jeffrey C; Schwartz, Charles E; Antonarakis, Stylianos; Butler, Merlin G

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

Affiliation

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research group

Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)

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

Article (Published version)

Identifiers

PID : unige:34647
DOI : 10.1136/jmedgenet-2012-100826
PMID : 22499347

ISSN of the journal0022-2593

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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

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.

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