An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion

Kara N., Okten G., Güneş S., Saglam Y., Tasdemir H. A., Pinarli F. A.

EPILEPSY RESEARCH, cilt.80, sa.2-3, ss.219-223, 2008 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 80 Sayı: 2-3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1016/j.eplepsyres.2008.03.020
  • Dergi Adı: EPILEPSY RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.219-223
  • Anahtar Kelimeler: epilepsy, mosaic ring chromosome 6, 6q terminal deletion, JUVENILE MYOCLONIC EPILEPSY, PHENOTYPE
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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 tow 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 tight of literature because the mosaic ring 6 and 6q terminal deletion was different caryotypically from other mosaic ring 6 patients. (C) 2008 Elsevier B.V. All rights reserved.