Epilepsy and autistic manifestations in an Egyptian child with ring 14

Ring chromosomes are rare chromosomal disorders. Patients carrying a ring chromosome have different phenotypes depending on the degree of structural rearrangement. We observed an 8-year-old patient attending the clinic for autistic disorders. By cytogenetic analysis, we identified a de-novo ring chromosome 14. Our patient had a rare condition of developmental delay, behavioral hyperactivity, anxiety, and autistic traits in addition to severe drug-resistant epilepsy, indicating that these features might be part of a syndromic condition. In comparison with other ring 14 patients, the neurological features seen in this patient were extremely severe, in addition to having low-functioning autism. We believe that chromosome 14qter can have a role in the etiology of autism; therefore, cytogenetic analysis should be considered in autistic children.