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

Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, Virginia Maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela

Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, Virginia Maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela.

Afiliación

Cappuccio G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Vitiello F; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Casertano A; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Fontana P; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Genesio R; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Bruzzese D; Preventive Medical Sciences, Federico II University, Naples, Italy.
Ginocchio VM; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Mormile A; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Nitsch L; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Andria G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Melis D; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy. daniela.melis@unina.it.

Ital J Pediatr ; 42: 39, 2016 Apr 12.

Article en En | MEDLINE | ID: mdl-27072107

Asunto(s)

Anomalías Múltiples/genética; Trastorno del Espectro Autista/genética; Hibridación Genómica Comparativa/métodos; Variaciones en el Número de Copia de ADN; Discapacidad Intelectual/genética; Adolescente; Niño; Preescolar; Aberraciones Cromosómicas; Femenino; Humanos; Lactante; Masculino; Adulto Joven

Palabras clave

Copy number variant (CNV); Intellectual disability; Multiple congenital anomalies; Pathogenic CNV; aCGH

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Hibridación Genómica Comparativa / Variaciones en el Número de Copia de ADN / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2016 Tipo del documento: Article País de afiliación: Italia

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