Advances in 16p11.2 microdeletion syndrome
10.3760/cma.j.issn.1673-4408.2024.07.013
- VernacularTitle:16p11.2微缺失综合征研究进展
- Author:
Huihong SU
1
;
Wenhui LI
Author Information
1. 复旦大学附属儿科医院神经内科，上海 201102
- Keywords:
16p11.2 microdeletion syndrome;
Neurodevelopmental disorders;
Epilepsy;
Paroxysmal kinesigenic dyskinesia;
Obesity;
Congenital abnormalities
- From:
International Journal of Pediatrics
2024;51(7):485-488
- CountryChina
- Language:Chinese
-
Abstract:
The 16p11.2 microdeletion syndrome is a copy number variant disease associated with multi-system abnormalities.Its clinical manifestations are complex and diverse，including neurodevelopmental disorders（intellectual development disorders，language delay，autism spectrum disorders，etc.），neurological paroxysmal disorders（epilepsy，paroxysmal kinesigenic dyskinesia，etc.），obesity，congenital malformations，etc.The prevalence is approximately 2.8 to 4.3 per 100 000 births.The pathogenesis is that there is a low copy repeat sequence on both sides of the proximal region of 16p11.2，and that the low copy repeat sequence at different positions in the germ cell during meiosis is rearranged through the non-allelic homologous recombination.At present，there is a lack of precise treatment.This article reviews the pathogenesis，classification，and clinical manifestations of 16p11.2 microdeletion syndrome，aiming to provide assistance for the mechanism research，early diagnosis，comprehensive evaluation，rehabilitation intervention，and fertility guidance of this syndrome.
