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Article

A case of segmental paternal isodisomy of chromosome 14.

Human genetics - 1 Mar 2002

Coveler Karen J, Yang Sam P, Sutton ReidV, Milstein Jay M, Wu Yuan-Qing, Bois Knox-Du, Beischel Linda S, Johnson John P, Shaffer Lisa G

Abstract excerpt

Uniparental disomy of chromosome 14 (UPD 14) results in one of two distinct abnormal phenotypes, depending upon the parent of origin. This discordance may result from the reciprocal over-expression and/or under-expression of one or more imprinted genes. We report a case of segmental paternal isodisomy for chromosome 14 with features similar to those reported in other paternal disomy 14 cases. Microsatellite...

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

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Source

Identifiers

PMID: 11935337
DOI: 10.1007/s00439-002-0688-4

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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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