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Article

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

American journal of medical genetics - 20 Nov 1995

Papenhausen P R, Mueller O T, Johnson V P, Sutcliffe M, Diamond T M, Kousseff B G

Abstract excerpt

Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14...

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Source

Identifiers

PMID: 8599348
DOI: 10.1002/ajmg.1320590302

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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.

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