Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis

In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetic...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Journal of human genetics 2019-03, Vol.64 (3), p.253-255
Hauptverfasser:	Mohan, K Naga, Cao, Ye, Pham, Justin, Cheung, Sau Wai, Hoffner, Lori, Ou, Z Zishuo, Surti, Urvashi, Cook, Edwin H, Beaudet, Arthur L
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Breakpoints Convulsions & seizures Epilepsy Genetic screening Genetics Genotype & phenotype Intellectual disabilities Laboratories Pathogenicity Pediatrics Phenotypes Schizophrenia Seizures
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!