1. Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings.
- Author
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Yu, S., Graf, W. D., Ramalingam, A., Brawner, S. J., Joyce, J. M., Fiedler, S., Zhou, X.-G., and Liu, H.-Y.
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HUMAN chromosomes , *DNA microarrays , *GENOTYPE-environment interaction , *HUMAN genetics , *COHORT analysis , *GENETIC polymorphisms , *PHENOTYPES - Abstract
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 [ABSTRACT FROM AUTHOR]
- Published
- 2011
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