Chromosomal analysis of patients with autism spectrum disorder or mental retardation

• Main Authors: Ying-Cheng Su, 蘇尹正
• Other Authors: Chia-Hsiang Chen
• Format: Others
• Language: zh-TW
• Published: 2013
• Online Access: http://ndltd.ncl.edu.tw/handle/09642403697569699098

碩士 === 慈濟大學 === 分子生物暨人類遺傳學系碩士班 === 101 === Autism spectrum disorder (ASD) is a general name of a group of childhood-onset neurodevelopmental disorder with impairments in social interaction and communication, as well as abnormal behavior. ASD includes autism, Rett’s disorder, childhood disintegrative disorder, Asperger’s disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS).The prevalence of ASD is estimated to be 6.0-6.5 in 1000, but the etiology is not clear yet. The heritability of ASD is more than 90%, so genetic factor plays a major role in the etiology of the disease. In this study, we used cytogenetic methods to identify the chromosomal abnormalities in 144 patients with ASD (143) or MR (1). The specimens were peripheral blood cells, and we carried out karyotype analysis with G-banding technique. In our cohort, we found chromosomal abnormalities in five patients including the translocation between chromosome 4 and 14 [46,XY,t(4;14)(q31.1;q24.1)], the translocation between chromosome X and 9[46,XY,t(X;9)(q13;q13)], the translocation between chromosome 4 and 8 [46,XY,t(4;8)(p16;p23.1)], and 46,XY,der(4)t(4;8)(p16;p23.1). No cryptic copy number variations associated with these translocations were detected by array-based comparative genomic hybridization (Array-CGH). Beside structural abnormality, we also found a numerical chromosomal abnormality in a case with sex chromosome aneuploidy, 47,XYY. Whether the additional Y chromosome is associated with ASD needs further study. Our data indicate that it is likely that certain ASD patients may be associated with chromosome abnormalities.