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Updated: May 30, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Chromosome 22q11.2 microdeletion syndrome
1Northern Alberta Neonatal Transport Team, Canada. marion.molesky@albertahealthservices.ca
Abstract:
Chromosome 22q11.2 microdeletion syndrome is the most common microdeletion syndrome in humans. It involves the loss of genetic material on the short arm of one of the chromosome 22 alleles. Until advanced testing was available, this syndrome was known by various names including DiGeorge syndrome and velo-cardio-facial syndrome. This syndrome has a varied presentation with significant abnormalities including congenital heart disease, hypocalcemia, immunologic deficiencies, learning disabilities, and behavioral problems. A multidisciplinary approach is required to diagnose and manage the varied manifestations.
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