title: An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
abstract: Ring chromosomes are rare chromosome disorders that arise usually de novo. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. We report an epileptic case of a 10-year-old boy to be mild psychomotor retardation and dysmorphic traits including microcephaly, brachycephaly, flat occiput, large and apparently low set ears, and bilateral syndactyly between his second and third fingers with mosaic ring chromosome 6 and 6q terminal deletion. Peripheral chromosome and fluorescent in situ hybridisation (FISH) analysis of the patient showed mos46,XY,r(6)(p24;q26),del(6)(q27) [30]/46,XY,del(6)(q27) [20] de novo. We presented the patient in the light of literature because the mosaic ring 6 and 6q terminal deletion was different caryotypically from other mosaic ring 6 patients.
authors.affiliation: Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology and Genetics, 55139 Samsun, Turkey. nurten@omu.edu.tr
authors.forename: Nurten
authors.initials: N
authors.lastname: Kara
authors.forename: Gulsen
authors.initials: G
authors.lastname: Okten
authors.forename: Sezgin Ozgur
authors.initials: SO
authors.lastname: Guneş
authors.forename: Yaman
authors.initials: Y
authors.lastname: Saglam
authors.forename: Haydar Ali
authors.initials: HA
authors.lastname: Tasdemir
authors.forename: Ferda Alparslan
authors.initials: FA
authors.lastname: Pinarli
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012303:Ring Chromosomes