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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 the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has...

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

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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