Family paracentric inversion of the short arm of chromosome X (Xp21.2p11.23) and connection with autism spectrum disorders

Srpski Arhiv za Celokupno Lekarstvo

关键词: paracentric inversion;    short arm of chromosome X;    autism spectrum disorders;   

DOI  :  10.2298/SARH1212760P

来源: DOAJ

【 摘 要 】

Introduction. Autism spectrum disorders (ASDs) are a group of complexpervasive developmental disorders characterized by impairments incommunication, social interaction and behavior. In most cases autism iscaused by a combination of genetic factors and environmental risk factors. In10% to 20% of cases it has been shown that the cause of ASD is genetic. CaseOutline. We are describing a 2-year-old boy who was referred to geneticcounseling because of speech delay and certain autism-like behavior. Bycytogenetic analysis the karyotype 46, inv(X),Y was obtained. The boy was acarrier of a paracentric inversion of the short arm of the chromosome X.After cytogenetic analysis of parental blood, it was detected that mother wasa carrier of identical aberration, but had no clinical signs. The method offluorescent in situ hybridization (FISH) yielded the precise breakpoint inthe region (p21.2p11.23). Mother and son were carriers of identical Xchromosome. Conclusion. Breakpoints are located in the regions that havealready been linked to autism, which indicates that the positional effect ofthe gene could have been a possible cause of the patient’s genotype. Inaddition to positional effects, in order to better understand the etiology ofautism other genetic and environmental factors should be always taken intoconsideration. [Projekat Ministarstva nauke Republike Srbije, br. ON175013]

【 授权许可】

Unknown