Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).
case_report · Level V
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- Record sourced from PubMed, PMID 10465116.
- Also identified by PMC identifier 1762978.
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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.
Medical subject headings
- Aneuploidy
- Chromosomes, Human, Pair 14
- Genomic Imprinting