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July-September 2015 | Vol. 8 | Issue 3 | Page No 2-6
Ring Chromosomes 13 and 14 presenting as intractableseizures: report of two cases with unusual features and review of literature
Divya Pachat1, Karthik M2, Vivi Srivastava3, Maya Thomas2 and Sumita Danda1
1Clinical Genetics Unit, Christian Medical College and Hospital (CMCH), Vellore, India 2Pediatric Neurology Unit, Christian Medical College and Hospital (CMCH), Vellore, India 3Cytogenetics Unit, Christian Medical College and Hospital (CMCH), Vellore, India
Address for Correspondence Email: sdanda@cmcvellore.ac.in
Ring chromosomes (RC) result from terminal deletion of chromosome arms, followed by fusion of the broken ends leading to the loss of genetic material. The phenotype is determined by the chromosome involved and the extent of deletion. Ring chromosome (RC) is a rare cytogenetic abnormality which should be considered in children with intractable seizures and developmental delay. Peripheral blood karyotype can easily identify such cases. We present two cases where chromosome analysis was performed; a girl presenting with intrauterine growth retardation, microcephaly, intellectual disability and early onset difficult to control seizures and a boy with uncontrolled seizures, dysmorphism and craniosynostosis. Chromosome analysis revealed RC13 in the girl and RC14 in the boy. Refractoriness of seizures in RC13 and craniosynostosis in RC14 that are reported here have so far not been described in literature. This report suggests that RC13, invariably leading to group 3 category of deletion 13q syndrome, may be more severe than previously indicated and the case with RC14 expands the phenotype of RC14. Uncontrolled seizures in a child with developmental delay with or without dsymorphism should warrant a chromosomal analysis.
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