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

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Title		Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Authors		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 show all authors [1 - 15]
Published in		Journal of medical genetics. 2012, vol. 49, no. 4, p. 270-6
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
Identifiers		DOI: 10.1136/jmedgenet-2012-100826 PMID: 22499347
Full text		Article (Published version) (902 Kb) - Limited access to UNIGE
Structures		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. 270-6. doi: 10.1136/jmedgenet-2012-100826 https://archive-ouverte.unige.ch/unige:34647