Identification of Novel Chromosomal Abnormalities, inv(5)(p13q13) and t(7;18)(q32;q21), Associated with Autism
Titel:
Identification of Novel Chromosomal Abnormalities, inv(5)(p13q13) and t(7;18)(q32;q21), Associated with Autism
Auteur:
Zheng Chen, Xiao-bing Zou, Ya-nan Zhang, Xin-ming Son, Chun-non Huang and Damu Tang
Verschenen in:
American journal of biochemistry and biotechnology
Paginering:
Jaargang 3 (2007) nr. 3 pagina's 159-162
Jaar:
2007
Inhoud:
Autism is a neurodevelopmental disorder defined by impairments in social interaction,communication, as well as restricted and stereotyped behaviors. While the etiology of autism remainslargely unknown, the existence of genetic components has been clearly demonstrated in autisticpathogenesis. The incidence of autism is 50-100 fold greater in the population with autistic familyhistory than the general population. Chromosomal abnormalities in 15q11-13 and 7q22-32 regionshave 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. Despitethese progresses, the exact genetic changes which underlie the disorder remain elusive. We report heretwo novel chromosomal abnormalities, an inversion inv(5)(p13;q13) and a translocationt(7;18)(q32;q21) in two autistic children. These findings may help to identify the candidate genes,whose aberrations may contribute to autistic pathogenesis.
Tijdschrift beschrijving