Inversion of chromosome 15 in a family with benign familial infantile seizures

Unalp A., Uran N., Giray Ö., Ercal D.

JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH, cilt.25, sa.1, ss.55-58, 2008 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 1
  • Basım Tarihi: 2008
  • Dergi Adı: JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.55-58
  • Anahtar Kelimeler: benign familial infantile seizures, epilepsy, INV DUP(15), DISORDER, EPILEPSY
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes or small supernumerary chromosomes, which are often associated with developmental delay and malformations. The most common of the heterogeneous group of the extra structurally abnormal chromosomes is the inv dup (15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. In the literature, benign familial infantile seizures locus have been found in 19q12-13.1 ve 16p12-q12 chromosomes. In this study, we descript a family which have benign familial infantile seizures accompanied by 15 q21.1, q26.2 inversion, because it has not been declareded before.