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Article

Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.

American journal of medical genetics. Part A - 1 Dec 2010

Leon Eyby, Zou Ying S, Milunsky Jeff M

Abstract excerpt

Down syndrome (DS) is the most common aneuploidy in liveborns with an estimated frequency of 1 in 650-1,000 births. Approximately 1-2% of all live-born DS individuals have mosaicism. The correlation between the percentage of mosaicism and the severity of the phenotype in mosaic trisomy 21 has been determined in previous studies. Patients with low percent of trisomy 21 have less phenotypic manifestations, higher...

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Share to Aneuploidy
Share to Chromosomes, Human, Pair 21
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21108401
DOI: 10.1002/ajmg.a.33739

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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