Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.

ABSTRACT:

Background

Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patie

SUBMITTER: Rozas MF 

PROVIDER: S-EPMC6688301 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature