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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1999 Aug;36(8):633–636.

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

R Martin 1, D Sabol 1, P Rogan 1
PMCID: PMC1762978  PMID: 10465116

Abstract

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.


Keywords: maternal uniparental disomy; chromosome 14; imprinting

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