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Article

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

American journal of human genetics - 1 Oct 2007

Wagenstaller Janine, Spranger Stephanie, Lorenz-Depiereux Bettina, Kazmierczak Bernd, Nathrath Michaela, Wahl Dagmar, Heye Babett, Glaser Dieter, Liebscher Volkmar, Meitinger Thomas, Strom Tim M

Abstract excerpt

Whole-genome analysis using high-density single-nucleotide-polymorphism oligonucleotide arrays allows identification of microdeletions, microduplications, and uniparental disomies. We studied 67 children with unexplained mental retardation with normal karyotypes, as assessed by G-banded chromosome analyses. Their DNAs were analyzed with Affymetrix 100K arrays. We detected 11 copy-number variations that most...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17847001
DOI: 10.1086/521274
PMCID: PMC2227926

Genes

MBD5

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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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