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J Med Genet. 1999 Aug;36(8):633-6.

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

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  • 1Department of Pediatrics, MCP Hahnemann School of Medicine, St Christopher's Hospital for Children, Philadelphia, PA, USA.

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.

PMID:
10465116
[PubMed - indexed for MEDLINE]
PMCID:
PMC1762978
Free PMC Article
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