E-Mail karger@karger.com Original Article Cytogenet Genome Res DOI: 10.1159/000365909 A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature Chariyawan Charalsawadi a Worathai Maisrikhaw a Verayuth Praphanphoj c Juthamas Wirojanan b Tippawan Hansakunachai e Rawiwan Roongpraiwan d Tasnawat Sombuntham d Nichara Ruangdaraganon d Pornprot Limprasert a Departments of a Pathology, and b Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, c Rajanukul Institute, and d Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, and e Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand 13q34, encompassing 23 genes. The MCF2L and UPF3A genes are among those genes that may explain the autistic features in our case. To the best of our knowledge, only one autistic case with a ring chromosome 13 has been previous- ly reported. In this article, we also systemically reviewed 21 studies that utilized a conventional cytogenetic method to detect chromosomal abnormalities in patients with ASD. When we summed all cases with chromosomal abnormali- ties, including the case from our study, the frequency of chromosomal abnormalities detected by conventional cyto- genetics in patients with ASD was 3.2% (118/3,712). © 2014 S. Karger AG, Basel Autistic spectrum disorder (ASD) is a group of neuro- developmental disorders characterized by impairments in 3 major domains: (1) social interaction, (2) communi- cation, and (3) restricted, repetitive and stereotyped pat- terns of behavior, interests and activities [American Psy- chiatric Association, 1994]. Onset of the disease is typi- cally prior to 3 years of age, and males are 4 times more frequently affected than females [reviewed in Poot, 2013]. The prevalence of ASD has been estimated to be 27.5– 60.0/10,000 individuals [Duchan and Patel, 2012]. In ad- Key Words Autism · Autistic spectrum disorder · Chromosomal abnormalities · Cytogenetics · Ring chromosome 13 Abstract Autistic spectrum disorder (ASD) is a group of neurodevel- opmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. Frequencies of chromosomal abnormalities in cohorts of in- dividuals with ASD varying between 1.2 and 28.6% have been reported. In this study, we evaluated 203 Thai children who met the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), for autistic disor- der or pervasive developmental disorder not otherwise specified (PDD-NOS), and who had neither major dysmor- phic features nor CGG repeat expansions of the FMR1 gene. A routine G-banding chromosome analysis was performed at a minimum of ISCN 400–550 bands. A chromosomal ab- normality was observed in one child (0.5%), a 41-month-old boy with a ring chromosome 13 detected by G-banding analysis and subsequently confirmed by FISH. SNP microar- ray analysis detected a 2.11-Mb deletion of chromosome Accepted: May 26, 2014 by M. Schmid Published online: August 23, 2014 Pornprot Limprasert Department of Pathology, Faculty of Medicine Prince of Songkla University Songkhla 90110 (Thailand) E-Mail lpornpro  @  yahoo.com © 2014 S. Karger AG, Basel 1424–8581/14/0000–0000$39.50/0 www.karger.com/cgr Downloaded by: Prince of Songkla University 61.19.201.16 - 8/25/2014 8:34:09 AM