Wos İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/11727/4807
Browse
3 results
Search Results
Item MLPA Method does not Always Confirm the Results of aCGH: A Study of KANSL1 Gene Deletion Patients(2022) Dincer, Selin Akad; Celik, Zerrin Yilmaz; Erol, Ilknur; Sahin, Feride Iffet; AAC-8356-2020Background: Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants of DNA. It has become easierto identify such chromosomal syndromes after use of array-based comparative genomic hybridization technology. One of them is the 17q21.31 microdeletion and microduplication syndrome. A 500-650 kb sized copy loss on 17q21.31 results in a phenotype which was described as Koolen-de Vries Syndrome including mental retardation, epilepsia, hypotonia and characteristic facial features. Today, we know that haplo-insufficiency of KANSL1 gene located in this region is responsible for these findings. A total of 30 patients with KANSL1 deletion detected during aCGH analyses were enrolled in the current study. All patients were analyzed by Multiplex Ligation-Dependent Probe Amplication (MLPA) method in order to confirm the results. Results: Three of the 30 patients had KANSL1 gene deletion detected by both methods and duplication was found in one patient. Conclusion: As a result of the study, we concluded that although new generation molecular methods enable us to obtain big and valuable data, each method has its own limitations and confirming the reults with another method increases test reliability. Using together of these methods are useful for the geneticists during diagnosis, clinical assessment and genetic counseling of patients.Item Increased nuchal translucency and pregnancy outcomes: experience of Baskent University Ankara Hospital(2019) Uysal, Nihal Sahin; Gulumser, Cagri; Celik, Zerrin Yilmaz; Yanik, Filiz Bilgin; 0000-0001-5385-5502; 0000-0002-4066-9038; 31360583; AAA-9475-2020; C-6543-2018Objective: First trimester nuchal translucency (NT) measurement is considered to be an important tool in antenatal follow-up. This study aimed to evaluate the outcomes of pregnancies with increased NT at Baskent University Ankara Hospital between 2004 and 2016. Materials and Methods: Patients with NT measurements >= 1.5 multiples of median (MoM) were divided into two groups; group I included increased NT cases without fetal anomalies (either abnormal fetal karyotype or congenital structural anomalies) or loss (intrauterine fetal death), and group II included increased NT cases with fetal anomalies or loss. The groups were compared with each other with respect to maternal demographic features and NT measurements. Results: Karyotype analyses were normal in 73.1% of cases with increased NT (57/78). Among those, 21.1% (12/57) had structural anomalies, and to specify, 9.6% (5/52 over 18 weeks) had cardiac anomalies. Although maternal demographic features did not differ significantly, NT measurements, both as millimeters and MoM, were significantly higher in group II (p<0.05). According to the receiver operating characteristic (ROC) curves, the optimal cutoff values for NT measurements for predicting fetal anomalies or loss were 3.05 mm and 2.02 MoM. NT measurement >7 millimeters or NT MoM >4.27 resulted in poor fetal outcomes without exception. Conclusion: Higher NT measurements indicate poorer pregnancy outcomes. Our study indicates that fetal echocardiography must be considered for all cases with increased NT.Item Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients(2016) Terzi, Yunus Kasim; Balci, Tugce Bulakbasi; Boga, Can; Koc, Zafer; Celik, Zerrin Yilmaz; Ozdogu, Hakan; Karakus, Sema; Sahin, Feride Iffet; 27095682Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated. Materials and Methods: This is a prospective single-center cross-sectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31) was receiving chelation therapy and the second group (group B, n=13) was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test. Results: p.H63D mutation was detected in 10 (32.3%) patients in group A and in only 1 patient (7.7%) in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046). In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05). Conclusion: Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.