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Siu WK, Lam CW, Mak CM, et al. Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Clin Transl Med. 2016;5(1):18doi: 10.1186/s40169-016-0098-1.
Siu, W. K., Lam, C. W., Mak, C. M., Lau, E. T., Tang, M. H., Tang, W. F., Poon-Mak, R. S., Lee, C. C., Hung, S. F., Leung, P. W., Kwong, K. L., Yau, E. K., Ng, G. S., Fong, N. C., & Chan, K. Y. (2016). Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Clinical and translational medicine, 5(1), 18. https://doi.org/10.1186/s40169-016-0098-1
Siu, Wai-Kwan, et al. "Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong." Clinical and translational medicine vol. 5,1 (2016): 18. doi: https://doi.org/10.1186/s40169-016-0098-1
Siu WK, Lam CW, Mak CM, Lau ET, Tang MH, Tang WF, Poon-Mak RS, Lee CC, Hung SF, Leung PW, Kwong KL, Yau EK, Ng GS, Fong NC, Chan KY. Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Clin Transl Med. 2016 Dec;5(1):18. doi: 10.1186/s40169-016-0098-1. Epub 2016 May 16. PMID: 27271878; PMCID: PMC4896892.
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Clin Transl Med. 2016 Dec;5(1):18. doi: 10.1186/s40169-016-0098-1. Epub 2016 May 16.

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.

Clinical and translational medicine

Wai-Kwan Siu, Ching-Wan Lam, Chloe Miu Mak, Elizabeth Tak-Kwong Lau, Mary Hoi-Yin Tang, Wing-Fai Tang, Rachel Sui-Man Poon-Mak, Chi-Chiu Lee, Se-Fong Hung, Patrick Wing-Leung Leung, Karen Ling Kwong, Eric Kin-Cheong Yau, Grace Sui-Fun Ng, Nai-Chung Fong, Kwok-Yin Chan

Affiliations

  1. Department of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China.
  2. Kowloon West Cluster Laboratory Genetics Service, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
  3. Department of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China. [email protected].
  4. Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
  5. Department of Clinical Psychology, Kwai Chung Hospital, Hong Kong, China.
  6. Department of Psychiatry, Kwai Chung Hospital, Hong Kong, China.
  7. Department of Psychology, The Chinese University of Hong Kong, Hong Kong, China.
  8. Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China.
  9. Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.

PMID: 27271878 PMCID: PMC4896892 DOI: 10.1186/s40169-016-0098-1

Abstract

BACKGROUND: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the first tier genetic testing for patients with autism spectrum disorder (ASD). In this regard, diagnostic yield of array comparative genomic hybridization (CGH) for ASD patients is determined in a cohort of Chinese patients in Hong Kong.

METHODS: A combined adult and paediatric cohort of 68 Chinese ASD patients (41 patients in adult group and 27 patients in paediatric group). The genomic DNA extracted from blood samples were analysed by array CGH using NimbleGen CGX-135K oligonucleotide array.

RESULTS: We identified 15 CNV and eight of them were clinically significant. The overall diagnostic yield was 11.8 %. Five clinically significant CNV were detected in the adult group and three were in the paediatric group, providing diagnostic yields of 12.2 and 11.1 % respectively. The most frequently detected CNV was 16p13.11 duplications which were present in 4 patients (5.9 % of the cohort).

CONCLUSIONS: In this study, a satisfactory diagnostic yield of array CGH was demonstrated in a Chinese ASD patient cohort which supported the clinical usefulness of array CGH as the first line testing of ASD in Hong Kong.

Keywords: ARRAY CGH; Autism spectrum disorder; Chinese

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