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Cytogenet Genome Res. 2011;134(4):260-8. doi: 10.1159/000330123. Epub 2011 Aug 17.

Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.

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  • 1Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, USA.


The aims of this study were to create a copy number variant (CNV) profile of human chromosome 22 and to establish a genotype-phenotype correlation for patients with genomic abnormalities on chromosome 22. Thus, 1,654 consecutive pediatric patients with a diversity of clinical findings were evaluated by high-resolution chromosomal microarray analysis (CMA). We identified 25 individuals with abnormal CNVs on chromosome 22, representing 1.5% of the cases analyzed in this cohort. Meanwhile, we detected 1,298 benign CNVs on this chromosome in these individuals. Twenty-one of the 25 abnormal CNVs and the majority of the benign CNVs occurred through involvement of the 8 unstable genomic regions enriched with low copy repeats (LCR22A-H). The highly dynamic status of LCR22s within the 22q11 region facilitates the formation of diverse genomic abnormalities. This CNV profile provides a general perspective of the spectrum of chromosome 22 genomic imbalances and subsequently improves the CNV-phenotype correlations.

Copyright © 2011 S. Karger AG, Basel.

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