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Article

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

American journal of medical genetics - 1 Mar 1993

Freeman S B, May K M, Pettay D, Fernhoff P M, Hassold T J

Abstract excerpt

Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also...

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Share to Angelman Syndrome
Share to Child, Preschool
Share to Chromosomes, Human, Pair 15

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Source

Identifiers

PMID: 8456836
DOI: 10.1002/ajmg.1320450522

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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