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

R A Martin; D W Sabol; P K Rogan

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

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

Authors

R A Martin¹, D W Sabol, P K Rogan

Affiliation

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

PMID: 10465116
PMCID: PMC1762978

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Aneuploidy*
Child, Preschool
Chromosomes, Human, Pair 14*
Female
Genetic Linkage
Genomic Imprinting*
Humans

Grants and funding

CA74683/CA/NCI NIH HHS/United States