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Article

Genomic analysis of partial 21q monosomies with variable phenotypes.

European journal of human genetics : EJHG - 1 Feb 2011

Roberson Elisha D O, Wohler Elizabeth Squibb, Hoover-Fong Julie E, Lisi Emily, Stevens Eric L, Thomas George H, Leonard Jay, Hamosh Ada, Pevsner Jonathan

Abstract excerpt

Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics with partial chromosome 21 monosomies. In two of these patients having terminal deletions (21q22.2-ter and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 20823914
DOI: 10.1038/ejhg.2010.150
PMCID: PMC3025784

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Source receipt: pubmed, retrieved 7 Sept 2026.

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