Open Access22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
Author(s) -
Rachel D. Burnside
Publication year - 2015
Publication title -
cytogenetic and genome research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.571
H-Index - 88
ISSN - 1424-8581
DOI - 10.1159/000438708
Subject(s) - drosha , biology , pasha , phenotype , genetics , microrna , null allele , allele , lineage (genetic) , dicer , microbiology and biotechnology , gene , rna , rna interference , history , archaeology
Chromosome 22q11.21 contains a cluster of low-copy repeats (LCRs), referred to as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in either deletion or duplication of various intervals in the region. The deletion of the DiGeorge/velocardiofacial syndrome interval LCR22A-D is the most common recurrent microdeletion in humans, with an estimated incidence of ∼1:4,000 births. Deletion of other intervals in 22q11.21 have also been described, but the literature is often confusing, as the terms ‘proximal', ‘nested', ‘distal', and ‘atypical' have all been used to describe various of the other intervals. Individuals with deletions tend to have features with widely variable expressivity, even among families. This review concisely delineates each interval and classifies the reported literature accordingly.