Article
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jun 2020
Liu Yi, Zhang Yanqing, Zarrei Mehdi, Dong Rui, Yang Xiaomeng, Zhao Dongmei, Scherer Stephen W, Gai Zhongtao
Abstract excerpt
Chromosome 15q24 microdeletion syndrome is characterized by developmental delay, facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as sometimes having autism spectrum disorder (ASD) and attention deficit hyperactivity disorder. Here, we report a boy with a 2.58-Mb de novo deletion at...
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