title: Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.
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.
authors.affiliation: Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, USA.
authors.forename: S
authors.initials: S
authors.lastname: Yu
authors.forename: W D
authors.initials: WD
authors.lastname: Graf
authors.forename: A
authors.initials: A
authors.lastname: Ramalingam
authors.forename: S J
authors.initials: SJ
authors.lastname: Brawner
authors.forename: J M
authors.initials: JM
authors.lastname: Joyce
authors.forename: S
authors.initials: S
authors.lastname: Fiedler
authors.forename: X-G
authors.initials: XG
authors.lastname: Zhou
authors.forename: H-Y
authors.initials: HY
authors.lastname: Liu
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction