A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression
نویسندگان
چکیده
Copy number variation (CNV) in 15q11.2, especially between BP1 and BP2, has been reported to be pathogenic and associated with autism spectrum disorder in White populations (Madrigal et al., 2012; Sorte et al., 2013). The segment between BP1 and BP2 contains four evolutionarily conserved genes, TUBGCP5, NIPA1, NIPA2, and CYFIP1, which are widely expressed in the neuronal tissue. Here, we report a microdeletion of chromosome 15q11.2 in a pair of Chinese autistic monozygotic twins.
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