Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.

Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is substantial. We considered whether this variable outcome was related to the presence of copy number variants (CNVs)—stretches...

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Autors principals: Mountford, HS, Bishop, DVM, Thompson, PA, Simpson, NH, Newbury, DF
Format: Journal article
Idioma:English
Publicat: Wiley 2020