Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge

BACKGROUND: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is well supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in the clinic. METHODS: We analyzed the findings of CNV studies from a coh...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Qiong, Goldstein, Jennifer, Wang, Ping, Gadi, Inder K., Labreche, Heather, Rehder, Catherine, Wang, Wei-Ping, McConkie, Allyn, Xu, Xiu, Jiang, Yong-hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382808/
https://www.ncbi.nlm.nih.gov/pubmed/27119313
http://dx.doi.org/10.1038/pr.2016.101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382808/
https://www.ncbi.nlm.nih.gov/pubmed/27119313
http://dx.doi.org/10.1038/pr.2016.101

Ejemplares similares