New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

BACKGROUND: Array-CGH (aCGH) is presently used into routine clinical practice for diagnosis of patients with intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorder (ASD). ACGH could detect small chromosomal imbalances, copy number variations (CNVs), and close...

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Detalles Bibliográficos
Autores principales: Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830019/
https://www.ncbi.nlm.nih.gov/pubmed/27072107
http://dx.doi.org/10.1186/s13052-016-0246-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830019/
https://www.ncbi.nlm.nih.gov/pubmed/27072107
http://dx.doi.org/10.1186/s13052-016-0246-7

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