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Article

Maternal uniparental disomy of chromosome 21 in a normal child.

American journal of medical genetics - 5 Mar 1999

Rogan P K, Sabol D W, Punnett H H

Abstract excerpt

Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline.

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Source

Identifiers

PMID: 10076888
DOI: 10.1002/(sici)1096-8628(19990305)83:1<69::aid-ajmg14>3.0.co;2-q

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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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