Exploring the role of genetics in autism: A sibling case study

نویسنده

  • N. Iyengar
چکیده

Chorea Gravidarum(CG) Rheumatic disease collagen vascular disease. Autism is a neurodevelopmental disorder characterized by social impairment, communication problems, and repetitive behaviors. Autism and genetic link is still controversial. So far about 5-10% of children with Autism seem to have a genetic link. Some of the genes associated with an autism risk appear to be clustered in a region on chromosome 11, according to the study of families with a predisposition to the condition. This case report is about the two siblings with autism who have the identical contiguous region of allele homozygosity totaling 33.3 Mb observed in chromosome 11. The large contiguous block of homozygosity confers a relative risk of a recessive disorder for the genes with in that interval. Genetic linkage studies are designed to identify the genomes shared by the family members. In the case report described in this article, both the siblings share the same changes in the genome [1,2]. As both the siblings show features of Autism and have identical chromosomal changes, the case supports the unified genetic model [1] for inherited autism.

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تاریخ انتشار 2011