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Article

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

Journal of medical genetics - 1 Aug 1994

Slater H, Shaw J H, Dawson G, Bankier A, Forrest S M

Abstract excerpt

A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to be a true...

Topics

Abortion, Habitual
Adult
Child, Preschool
Chromosomes, Human, Pair 13
Female
Genomic Imprinting
Humans
Male
Phenotype
Pregnancy
Translocation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7815424
DOI: 10.1136/jmg.31.8.644
PMCID: PMC1050029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7815424-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.PMID 7815424Read ↗

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