Supplementary Material for: Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings Yu S. Graf W.D. Ramalingam A. Brawner S.J. Joyce J.M. Fiedler S. Zhou X.-G. Liu H.-Y. 10.6084/m9.figshare.4751014.v1 https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Identification_of_Copy_Number_Variants_on_Human_Chromosome_22_in_Patients_with_a_Variety_of_Clinical_Findings/4751014 <p>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.</p> 2017-03-14 13:12:47 Chromosomal microarray analysis Chromosome 22 Copy number variant Deletion Duplication Genomic disorders Low copy repeat