Now showing items 1-3 of 3

    • DiGeorge Syndrome 

      Gokturk, Bahar; Reisli, Ismail (2016)
      DiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical ...
    • Familial 22q11.2 deletion syndrome with autosomal dominant inheritance 

      Gokturk, Bahar; Gokdemir, Mahmut; Reisli, Ismail; Yildirim, Mahmut Selman (2016)
      22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the ...
    • Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome 

      Gokturk, Bahar; Genc Yuzuak, Serap; Hazar Sayar, Esra; Yildirim, Mahmut Selman; Reisli, Ismail (2018)
      The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant ...