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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Ital J Pediatr
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: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830019/
https://ncbi.nlm.nih.gov/pubmed/27072107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-016-0246-7
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares