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Article

A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.

Journal of medical genetics - 1 Aug 2018

Nakamura Akie, Muroya Koji, Ogata-Kawata Hiroko, Nakabayashi Kazuhiko, Matsubara Keiko, Ogata Tsutomu, Kurosawa Kenji, Fukami Maki, Kagami Masayo

Abstract excerpt

BACKGROUND: Paternal uniparental disomy for chromosome 7 (upd(7)pat) is extremely rare, and only four cases have been previously reported. As these cases were accompanied by autosomal-recessive disorders which are likely to be involved in growth restriction, the relevance of upd(7)pat to the overgrowth phenotype remains unclear. Here we describe one case of upd(7)pat with no additional genetic diseases, which may...

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Share to Chromosomes, Human, Pair 7
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29455159
DOI: 10.1136/jmedgenet-2017-104986

Genes

GRB10
PEG10

Provenance

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