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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Foilsithe in:Ital J Pediatr
Main Authors: Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2016
Ábhair:
Research
Rochtain Ar Líne: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
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