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Article

Distinct phenotype in maternal uniparental disomy of chromosome 14.

American journal of medical genetics - 1 Jun 1994

Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J

Abstract excerpt

We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8092191
DOI: 10.1002/ajmg.1320510213

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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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