The 16p 11.2 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 16p1 1.2 microdeletion syndrome,aiming to provide assistance for the mechanism research,early diagnosis,comprehensive evaluation,rehabilitation intervention,and fertility guidance of this syndrome.
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