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Article

Paternal Uniparental Disomy of Chromosome 14 with Hypospadias.

Cytogenetic and genome research - 1 Jan 2016

Yuan Haiming, Xie Yingjun, Li Qian, Hu Xizi, Li Xinwei, Sun Xiaofang, Zhao Weiwei

Abstract excerpt

Paternal uniparental disomy 14 (patUPD14) is a distinct, clinically recognizable syndrome. Using a clinical SNP microarray, we identified patUPD14 in a boy with a normal karyotype presenting cardiomyopathy and facial anomalies, a specific configuration of the thoracic ribs ('coat hanger sign'), and hypospadias. Analyses of polymorphic microsatellites confirmed the diagnosis of patUPD14. We discuss the functions...

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Identifiers

PMID: 27300571
DOI: 10.1159/000446783

Genes

ESR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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