Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 demons...

Topics

Angelman Syndrome
Child, Preschool
Chromosomes, Human, Pair 15
DNA
Genetic Markers
Homozygote
Humans
Male
Phenotype
Translocation, Genetic

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8456836
DOI: 10.1002/ajmg.1320450522

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8456836-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.PMID 8456836Read ↗

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.Semantic proximity Read ↗

A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13Semantic proximity Read ↗

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.Semantic proximity Read ↗

Partial hexasomy of chromosome 15.Semantic proximity Read ↗

Uniparental paternal disomy in Angelman's syndrome.Semantic proximity Read ↗

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.Semantic proximity Read ↗

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.Semantic proximity Read ↗

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.Semantic proximity Read ↗

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.Semantic proximity Read ↗

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingSemantic proximity Read ↗

Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2)Semantic proximity Read ↗

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.