Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong KongReportar como inadecuado

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Clinical and Translational Medicine

, 5:18

Clinical Genomics


BackgroundChromosomal 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.

MethodsA 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.

ResultsWe 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.

ConclusionsIn 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.

KeywordsAutism spectrum disorder Chinese ARRAY CGH AbbreviationsCGHcomparative genomic hybridization

ASDautism spectrum disorder

CMAchromosomal microarray

CNVcopy number variants

VOUSvariants of uncertain significance

Electronic supplementary materialThe online version of this article doi:10.1186-s40169-016-0098-1 contains supplementary material, which is available to authorized users.

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Autor: Wai-Kwan Siu - Ching-Wan Lam - Chloe Miu Mak - Elizabeth Tak-Kwong Lau - Mary Hoi-Yin Tang - Wing-Fai Tang - Rachel Sui-

Fuente: https://link.springer.com/

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