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Article

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

American journal of medical genetics. Part A - 15 Sept 2004

Stevenson David A, Brothman Arthur R, Chen Zhong, Bayrak-Toydemir Pinar, Longo Nicola

Abstract excerpt

We report on a girl with a dicentric chromosome 14 [45,XX,inv(9)(p11q13),dic(14;14)(p11.1;p11.1)] with paternal uniparental disomy (UPD) for chromosome 14. Clinical findings include severe hypotonia, thoracic dystrophy, diastasis recti, swallowing difficulties with aspiration, developmental delay, and multiple minor anomalies. UPD for chromosome 14 has been documented with paternal UPD much less commonly than...

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PMID: 15368501
DOI: 10.1002/ajmg.a.30200

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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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