An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
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.
Kara
Nurten
N
Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology and Genetics, 55139 Samsun, Turkey. nurten@omu.edu.tr
Okten
Gulsen
G
Guneş
Sezgin Ozgur
SO
Saglam
Yaman
Y
Tasdemir
Haydar Ali
HA
Pinarli
Ferda Alparslan
FA
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