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Article

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

American journal of medical genetics. Part A - 15 Jun 2007

Probst Frank J, Roeder Elizabeth R, Enciso Victoria B, Ou Zhishuo, Cooper M Lance, Eng Patricia, Li Jiangzhen, Gu Yanghong, Stratton Robert F, Chinault A Craig, Shaw Chad A, Sutton V Reid, Cheung Sau Wai, Nelson David L

Abstract excerpt

Chromosomal microarray analysis (CMA) by array-based comparative genomic hybridization (CGH) is a new clinical test for the detection of well-characterized genomic disorders caused by chromosomal deletions and duplications that result in gene copy number variation (CNV). This powerful assay detects an abnormality in approximately 7-9% of patients with various clinical phenotypes, including mental retardation. We...

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Share to Chromosome Deletion
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to Glycoproteins

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Trans-Activators

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 17506108
DOI: 10.1002/ajmg.a.31781

Genes

IDS
FMR1

Provenance

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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