Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

doi:10.1038/s10038-018-0444-9

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Article

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

Journal of human genetics - 1 Jul 2018

Borgulová Irena, Soldatova Inna, Putzová Martina, Malíková Marcela, Neupauerová Jana, Marková Simona Poisson, Trková Marie, Seeman Pavel

Abstract excerpt

Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old deaf girl with a paternal uniparental diploidy or isodisomy with a genome-wide loss of heterozygosity (LOH). The patient was originally tested for non-syndromic deafness, and the novel variant p.V234I in the ESRRB gene was found in a homozygous state. Our...

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PMID: 29636544
DOI: 10.1038/s10038-018-0444-9

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ESRRB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.