Research Article Open Access

Identification of Novel Chromosomal Abnormalities, inv(5)(p13q13) and t(7;18)(q32;q21), Associated with Autism

Zheng Chen1, Xiao-bing Zou2, Ya-nan Zhang2, Xin-ming Son2, Chun-non Huang2 and Damu Tang2
  • 1 Sun Yat-sen University, China
  • 2 McMaster University, Canada

Abstract

Autism is a neurodevelopmental disorder defined by impairments in social interaction, communication, as well as restricted and stereotyped behaviors. While the etiology of autism remains largely unknown, the existence of genetic components has been clearly demonstrated in autistic pathogenesis. The incidence of autism is 50-100 fold greater in the population with autistic family history than the general population. Chromosomal abnormalities in 15q11-13 and 7q22-32 regions have been frequently detected in autistic patients. Abnormalities in other chromosomal regions, including 14q32.3 deletion and t(5;18)(q33.1;q12.1) translocation, have also been reported. Despite these progresses, the exact genetic changes which underlie the disorder remain elusive. We report here two novel chromosomal abnormalities, an inversion inv(5)(p13;q13) and a translocation t(7;18)(q32;q21) in two autistic children. These findings may help to identify the candidate genes, whose aberrations may contribute to autistic pathogenesis.

American Journal of Biochemistry and Biotechnology
Volume 3 No. 3, 2007, 159-162

DOI: https://doi.org/10.3844/ajbbsp.2007.159.162

Submitted On: 8 May 2007 Published On: 30 September 2007

How to Cite: Chen, Z., Zou, X., Zhang, Y., Son, X., Huang, C. & Tang, D. (2007). Identification of Novel Chromosomal Abnormalities, inv(5)(p13q13) and t(7;18)(q32;q21), Associated with Autism. American Journal of Biochemistry and Biotechnology, 3(3), 159-162. https://doi.org/10.3844/ajbbsp.2007.159.162

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Keywords

  • autism
  • reciprocal translocation t(7;18)(q32;q21)
  • inversion inv(5)(p13q13)