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

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 interst...

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Main Authors: Martin, R., Sabol, D., Rogan, P.
Formato: Artigo
Idioma:English
Publicado em: BMJ Group 1999
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762978/
https://ncbi.nlm.nih.gov/pubmed/10465116
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spelling pubmed-17629782008-04-11 Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2) Martin, R. Sabol, D. Rogan, P. J Med Genet Short Report 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 BMJ Group 1999-08 /pmc/articles/PMC1762978/ /pubmed/10465116 Text en
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Short Report
spellingShingle Short Report
Martin, R.
Sabol, D.
Rogan, P.
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
description 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
author Martin, R.
Sabol, D.
Rogan, P.
author_facet Martin, R.
Sabol, D.
Rogan, P.
author_sort Martin, R.
title Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
title_short Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
title_full Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
title_fullStr Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
title_full_unstemmed Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
title_sort maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
publisher BMJ Group
publisher_facet BMJ Group
publishDate 1999
url https://ncbi.nlm.nih.gov/pmc/articles/PMC1762978/
https://ncbi.nlm.nih.gov/pubmed/10465116
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