Progress on chromosome 22q11 deletion syndrome
10.3760/cma.j.issn.1673-4408.2010.03.005
- VernacularTitle:22q11缺失综合征的研究进展
- Author:
Ying ZHU
- Publication Type:Journal Article
- Keywords:
22q11 deletion syndrome;
Chromosome 22;
Genomic disorder
- From:
International Journal of Pediatrics
2010;37(3):237-240
- CountryChina
- Language:Chinese
-
Abstract:
Chromosome 22qll deletion syndrome(22q11DS) is a common chromosomal microdeletion syndrome. Its clinical manifestation is complex, comprising congenital heart disease, dysmorphic facial, immunodeficiency, endocrine dysfunction and so on. The syndrome has a population prevalence of approximately 1/2500-1/4000. There have been many recent advances in understanding of the clinical manifestation, behavior and psychiatric problems and the mechanisms leading to the specific phenotypic features in chromosome 22q11 deletion syndrome. Asymmetric recombination of homologous low copy repetitives in the deletion region causes the deletion of 22q11. TBX1 is the dominant gene contributing to the phenotype.
