Progress on chromosome 22q11 deletion syndrome / 国际儿科学杂志

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.