Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

  title={Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair},
  author={Dilek Aktaş and Eda Utine and Kristin Mrasek and Anja Weise and Ferdinand von Eggeling and Kalbiye Yalaz and Nicole Posorski and Nurten A Akarsu and Mehmet Alikaşifoğlu and Thomas Liehr and Erg{\"u}l Tunçbilek},
  journal={Molecular Cytogenetics},
  pages={10 - 10}
BackgroundGenomic 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… 

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