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

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• 作者：Gerarda Cappuccio ; Francesco Vitiello ; Alberto Casertano…
• 关键词：Intellectual disability ; aCGH ; Copy number variant (CNV) ; Pathogenic CNV ; Multiple congenital anomalies
• 刊名：Italian Journal of Pediatrics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：42
• 期：1
• 全文大小：895 KB
• 刊物主题：Pediatrics; Maternal and Child Health;
• 出版者：BioMed Central
• ISSN：1824-7288

文摘

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 closely define their size and gene content. ACGH detects pathogenic imbalances in 14–20 % of patients with ID. The aims of this study were: to establish clinical clues potentially associated with pathogenic CNVs and to identify cytogenetic indicators to predict the pathogenicity of the variants of uncertain significance (VOUS) in a large cohort of paediatric patients.