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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...

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Share to Abortion, Habitual
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 13

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Share to Translocation, Genetic

Source

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Identifiers

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

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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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