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