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Öğe A balanced non-reciprocal translocated case with recurrent abortions: The importance and validity of conventional cytogenetics analysis in balanced translocations detection when comparing to the MicroArray-CGH technique(Elsevier Science Bv, 2017) Özdemir, Öztürk; Urfali, Mine; Paksoy, Baris; Karakaya, Taner; Yildiz, Onur; Sılan, Fatma[Anstract Not Available]Öğe A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome(Elsevier Science Bv, 2018) Bir, Firdevs Dincsoy; Özdemir, Öztürk; Karakaya, Taner; Yildiz, Onur; Sılan, Fatma[Anstract Not Available]Öğe A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype-phenotype correlation in a case report(Elsevier Science Bv, 2017) Sılan, Fatma; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Özdemir, Öztürk[Anstract Not Available]Öğe Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach(Tubitak Scientific & Technological Research Council Turkey, 2022) Yildiz, Onur; Sılan, Fatma; Karakaya, Taner; Özdemir, ÖztürkBackground/aim: It is not always possible to determine the causative basis of pregnancy losses and even today it has been reported that 50% of cases with recurrent pregnancy loss (RPL) have no reason to be detected. In our study, it is aimed to reveal the copy number variations (CNVs) of the genes which presumably have a potential effect in individuals with RPL and contribute to subsequent functional studies in the follow-up. Materials and methods: We retrospectively evaluated the array-comparative genomic hybridization (aCGH) data of cytogenetically 64 normal individuals (21 couples, 11 unrelated women, and 11 unrelated men) who had applied to our outpatient clinic from January 2016 to December 2017, for the history of idiopathic two or more RPL. Results: A total of 83 CNVs were detected in 56 different chromosomal regions [36% (20/56) is deletion and 64% (36/56) is duplication] in 40/64 (62.5%) of the cases. Two detected deleterious CNVs encompassing 1p36.22-p36.21 and 10q11.22 chromosomal locus have been reported as pathogenic according to the Database of Genomic Variants (DGV). Conclusion: CNVs that may play a role in the genetic etiology of idiopathic RPL were revealed in our study and potential chromosomal loci were introduced to the literature for further analysis. The detection of CNVs and their association with reproduction such as RPL, infertility, and even other diseases will allow us to have more information about the clinical consequences and will make it possible to provide more accurate and comprehensive genetic counseling.Öğe Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations(Elsevier Science Bv, 2018) Özdemir, Öztürk; Karakaya, Taner; Bir, Firdevs Dincsoy; Yildiz, Onur; Sılan, Fatma[Anstract Not Available]Öğe Microtia, micrognati, facial dysmorphism, short stature and mental retardation: A rare case with Meirer-Gorlin syndrome(Elsevier Science Bv, 2015) Paksoy, Baris; Sılan, Fatma; Yildiz, Onur; Özdemir, Öztürk; Tas, Zafer Tuna[Anstract Not Available]Öğe The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report(Egyptian Society of Human Genetics, 2018) Sılan, Fatma; Bourouba, Romyla; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Özdemir, ÖztürkBackground: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this study was to report cytogenetics and molecular characterization of a mental and motor retarded boy with short arm of chromosome 8 rearrangements [invdupdel(8p)] in this current case report. Subjects and methods: We report an 11-year-old boy with scoliosis, intellectual disability, mental-motor retardation and characteristic facial features. Agenesis of corpus callosum was detected with brain Magnetic Resonance Imaging (MRI) analysis. Derivative chromosome 8 structure was identified after conventional cytogenetics – karyotype analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA) and Microarray-based Comparative Genomic Hybridization (aCGH) techniques. Genotype-phenotype correlation in the current proband case will be discussed. Results: Case was diagnosed as 46, XY, der (8), del (8) (p23.1) invdup (8) (p11.1-p23.1) by using advanced comparable techniques. Subtelomeric MLPA analysis showed deletion of FBXO25 gene which is located at 8p23.3 locus and FISH with subtelomeric probes for 8p shows also only deleted region. The microarray-CGH profilling showed 7,9 mb deletion for 8p23.1 and 31 mb duplication for 8p11.1 locuses. Conclusion: Results from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. © 2018Öğe The microdeletion of 15q11.2 locus encompassing TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes in an epileptic case with macrocephaly, attention-deficit/hyperactivity disorder (ADHD), speech and motor delay(Elsevier Science Bv, 2017) Özdemir, Öztürk; Yildiz, Onur; Karakaya, Taner; Paksoy, Baris; Urfali, Mine; Sılan, Fatma[Anstract Not Available]
