Research progress on ring 14 chromosome syndrome

Abstract

Ring 14 chromosome syndrome is a rare congenital chromosomal abnormality.The clinical manifestations of the syndrome include mental disorders, intractable seizures and a series of neuropsychiatric developmental disorders, and its pathogenic mechanism is not yet clear.This article summarizes the research progress of the type of ring 14 chromosome syndrome, clinical phenotype, pathogenic mechanism and other aspects, in order to provide better support for the mechanism research and clinical diagnosis and treatment of the ring 14 chromosome syndrome. Key words: Ring 14 chromosome syndrome; Karyotype; Refractory epilepsy