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

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....

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Bibliographic Details
Main Authors: M. Fernanda Rozas, Felipe Benavides, Luis León, Gabriela M. Repetto
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Congenital heart defects
Chromosome 22q11.2 deletion syndrome
DiGeorge syndrome
Meta-analysis
Palate anomalies
Systematic review
Online Access:http://link.springer.com/article/10.1186/s13023-019-1170-x

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http://link.springer.com/article/10.1186/s13023-019-1170-x

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