title: Copy number variation and autism: new insights and clinical implications.
abstract: Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for ASD, with a detection rate exceeding conventional cytogenetics and any single gene testing. However, interpretation of the results is challenging and there is no consensus on "what" and "how much" to disclose. In this article, we will review how CNV studies have improved our understanding of ASD, the clinical applications, and related counseling issues. Future direction of autism genetic research is also discussed.
authors: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region; Centre of Reproduction, Development and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address: bhychung@hku.hk.
authors: Brian Hon-Yin
authors: BH
authors: Chung
authors: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
authors: Victoria Qinchen
authors: VQ
authors: Tao
authors: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
authors: Winnie Wan-Yee
authors: WW
authors: Tso
mesh_terms: D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010819:Physician's Role; D014342:Truth Disclosure
keywords: autism spectrum disorder; chromosome microarray; copy number variation; genetic counseling; genetic testing