Ontology highlight
ABSTRACT:
SUBMITTER: Halder A
PROVIDER: S-EPMC4804090 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Halder Ashutosh A Jain Manish M Kalsi Amanpreet Kaur AK
Scientifica 20160309
The present study evaluated the role of SNP microarray in 101 cases of clinically suspected FISH negative (noninformative/normal) 22q11.2 microdeletion syndrome. SNP microarray was carried out using 300 K HumanCytoSNP-12 BeadChip array or CytoScan 750 K array. SNP microarray identified 8 cases of 22q11.2 microdeletions and/or microduplications in addition to cases of chromosomal abnormalities and other pathogenic/likely pathogenic CNVs. Clinically suspected specific deletions (22q11.2) were dete ...[more]