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Article

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

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

Thorson Laura, Bryke Christine, Rice Gregory, Artzer Amber, Schilz Christine, Israel Jamie, Huber Suzanne, Laffin Jennifer, Raca Gordana

Abstract excerpt

Development and implementation of high-density DNA arrays demonstrated the important role of copy number changes on the X chromosome in the etiology of developmental delay and mental retardation (MR). We describe two unrelated patients with developmental delay due to similar interstitial duplications at Xp21-p22. The first patient is a 6-month-old male with multiple affected family members including many females....

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Share to Chromosome Banding
Share to Chromosomes, Human, X

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

Share to Comparative Genomic Hybridization

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Source

Identifiers

PMID: 20358600
DOI: 10.1002/ajmg.a.33340

Genes

ARX
CDKL5
NHS
SMS

Provenance

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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