Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Aktas D., Utine E. G., Mrasek K., Weise A., von Eggeling F., Yalaz K., ...Daha Fazla

MOLECULAR CYTOGENETICS, cilt.3, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1186/1755-8166-3-10
  • Dergi Adı: MOLECULAR CYTOGENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between C1orf100 and C1orf121 in 1q44.