Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

Browse

Filters

2016 - 20183

Settings

Author: search.filters.author.Gokturk, Baharsearch.filters.applied.f.language: search.filters.language.tur

Search Results

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
    (2016) Gokturk, Bahar; Gokdemir, Mahmut; Reisli, Ismail; Yildirim, Mahmut Selman
    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 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype correlation is weak in this patient group. We aimed to present three members in the same family due to an autosomal dominant inheritance with 22q11.2 deletion and different clinical findings.
  • Thumbnail Image
    Item
    DiGeorge Syndrome
    (2016) Gokturk, Bahar; Reisli, Ismail
    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 deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up.
  • Thumbnail Image
    Item
    Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome
    (2018) Gokturk, Bahar; Genc Yuzuak, Serap; Hazar Sayar, Esra; Yildirim, Mahmut Selman; Reisli, Ismail
    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 predisposition to lymphoid malignancy. The gene mutated in NBS, NBS1, has been mapped to the 8q21 chromosome. The product of this gene is a protein with a molecular weight of 95 kDa named nibrin. One of the common features of NBS is dysregulation of both cellular and humoral arms of the immune system, resulting in recurrent bacterial and viral infections, mainly of the respiratory tract. NBS is a rare syndrome. It should be considered that NBS may be associated with immunodeficiency