Eastern J Med. 2019; 24(4): 554-557 | DOI: 10.5505/ejm.2019.52714

Coexistence of Autism and Ring Chromosome 22

Esra Sizer¹, Tuðba Yüksel¹, Diclehan Oral^2
1Department of Child and Adolescence Psychiatry, Dicle University School of Medicine, Diyarbakýr/Turkey
²Department of Medical Genetics, Dicle University School of Medicine, Diyarbakýr/Turkey

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 discussed a six-year old boy having a karyotype of 46, XY, r (22) (p11.2q13), ish del (22qter) (MS607-) on cytogenetic examination who was diagnosis with autism spectrum disorder.

Keywords: ring chromosome 22, 22q13, autism

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