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Article

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

American journal of medical genetics. Part A - 1 Jun 2009

Zahir Farah R, Langlois Sylvie, Gall Kim, Eydoux Patrice, Marra Marco A, Friedman Jan M

Abstract excerpt

We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip array genome hybridization and involves...

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Share to Abnormalities, Multiple
Share to Chromosomes, Artificial, Bacterial
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19449402
DOI: 10.1002/ajmg.a.32827

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19449402-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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