Coexistence of Autism and Ring Chromosome 22

Abstract

The incidence of ring chromosome 22, which was first described by Weber et al. in 1968, is not known yet. Phenotypic features such as craniofacial anomalies, growth and developmental retardation, hypotonia, mental retardation, delay in motor skills, and syndactyly in the 2nd and 3rd toes are observed in cases with ring chromosome 22. Ring chromosome 22 abnormality has rarely been reported in children diagnosed with autism spectrum disorder. Herein, we will disarss a sixyear old boy having a karyotype of 46, XY, r (22) (p11.2q13), ish del (22qter) (MS607-) on cytogenetic examination who was diagnosed with autism spectrum disorder.