Chromosomal Abnormalities in Patients With Autism Spectrum Disorders From Taiwan

Hsiao Mei Liao, Susan Shur Fen Gau*, Wen Che Tsai, Jye Siung Fang, Ying Cheng Su, Miao Chun Chou, Shih Kai Liu, Wen Jiun Chou, Yu Yu Wu, Chia Hsiang Chen

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

12 Scopus citations


Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.

Original languageEnglish
Pages (from-to)734-741
Number of pages8
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number7
StatePublished - 10 2013
Externally publishedYes


  • Aneuploidy
  • Autism
  • Chromosome
  • Genetics
  • Translocation


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