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Article

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.

American journal of medical genetics - 18 Dec 2000

DeLozier-Blanchet C D, Roeder E, Denis-Arrue R, Blouin J L, Low J, Fisher J, Scharnhorst D, Curry C J

Abstract excerpt

This patient, in whom trisomy 12 mosaicism was confirmed in multiple organs, is the fifth case diagnosed postnatally and the first reported for whom a meiotic origin of the trisomy, maternal meiosis I, was determined. Mosaic aneuploidy was suspected because of pigmentary dysplasia, a frequent but...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 12
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11146464
DOI: 10.1002/1096-8628(20001218)95:5<444::aid-ajmg7>3.0.co;2-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11146464-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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