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Öğe 17q22 microdeletion detected by array-CGH leading to NOG-related symphalangism spectrum disorder (NOG-SSD)(Nature Publishing Group, 2019) Atli, E.; Gurkan, H.; Atli, E. I.; Ozen, Y.; Eker, D.; Akurut, C.; Demir, S.[Abstract Not Available]Öğe A 9-YEAR-OLD-GIRL WITH PHELAN McDERMID SYNDROME, WHO HAD BEEN DIAGNOSED WITH AN AUTISM SPECTRUM DISORDER(Macedonian Acad Sciences Arts, 2016) Gorker, I; Gurkan, H.; Ulusal, Demir S.; Atli, E.; Atli, Ikbal E.Phelan McDermid Syndrome (PHMDS) (OMIM # 606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM * 606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescent in situ hybridization (FISH) technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.Öğe ArrayCGH analysis in patients with intellectual disability/developmental delay in Turkish Children living in Trakya Region(Nature Publishing Group, 2018) Gurkan, H.; Gorker, I.; Atli, E.; Atli, E. I.; Ulusal, S. Demir; Eker, D.; Tozkir, H.[Abstract Not Available]Öğe Clinical results of chromosome 15 copy number variations(Springernature, 2020) Gurkan, H.; Atli, E.; Yalcintepe, S.; Atli, E.; Demir, S.; Ozen, Y.; Tozkir, H.[Abstract Not Available]Öğe Combined Partial Trisomy 7q and Partial Monosomy 21q in a 6 Year Old Male Patient Phenotypic and Genotypic Findings(Nature Publishing Group, 2019) Atli, E. I.; Gurkan, H.; Atli, E.; Ozen, Y.; Gorker, I.; Eker, D.; Akurut, C.[Abstract Not Available]Öğe Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis(Elsevier Taiwan, 2018) Cilingir, I. Uzun; Sayin, Niyazi Cenk; Gurkan, H.; Ciftdemir, N. A.; Atli, E.; Inan, C.; Erzincan, S.; Sutcu, H.; Vatansever, U.; Varol, FusunMacro Domain Containing 2 (MACRO D2) gene is a gene from macro family which is highly expressed in the ventriculer zone of the brain during embryonic development. Association between Autism spectrum disorders and MACRO D2 gene polymorphisms has been reported before [1] . Deletion in MACRO D2 gene has also been associated with Kabuki Syndrome which is a well described congential anomaly syndrome [2] .Öğe Different phenotype with 22q13.3 deletion syndrome in two patients(Nature Publishing Group, 2019) Gurkan, H.; Atli, E.; Atli, E.; Demir, S.; Ozen, Y.; Tozkir, H.; Eker, D.[Abstract Not Available]Öğe EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)(Macedonian Acad Sciences Arts, 2018) Atli, E., I; Gurkan, H.; Atli, E.; Tozkir, H.; Varol, G. F.; Inan, C.The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46, XY, t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46, XY, t(15;22)(p11.2;q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.Öğe Four novel pathogenic variants in TSC2 gene of Turkish patients with tuberous sclerosis complex(Nature Publishing Group, 2018) Tozkir, H.; Ulusal, S. Demir; Gurkan, H.; Atli, E.; Karal, Y.; Karasalihoglu, S.[Abstract Not Available]Öğe GENETIC ANALYSES OF THE NF1 GENE IN TURKISH NEUROFIBROMATOSIS TYPE I PATIENTS AND DEFINITION OF THREE NOVEL VARIANTS(Macedonian Acad Sciences Arts, 2017) Ulusal, S. D.; Gurkan, H.; Atli, E.; Ozal, S. A.; Ciftdemir, M.; Tozkir, H.; Karal, Y.Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.Öğe Genetic diagnosis of bone mineralisation disorders with Next Generation Sequencing and definition of five novel pathogenic variations(Nature Publishing Group, 2019) Tozkir, H.; Demir, S.; Gurkan, H.; Eker, D.; Atli, E.[Abstract Not Available]Öğe INVESTIGATION OF THE RELATIONSHIP OF TNFRSF11A GENE POLYMORPHISMS WITH BREAST CANCER DEVELOPMENT AND METASTASIS RISK IN PATIENTS WITH BRCA1 OR BRCA2 PATHOGENIC VARIANTS LIVING IN THE TRAKYA REGION OF TURKEY(Macedonian Acad Sciences Arts, 2020) Ozdemir, K.; Gurkan, H.; Demir, S.; Atli, E.; Ozen, Y.; Sezer, A.; Tuncbilek, N.Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.Öğe p23.3 deletion and 16q23.2-q24.3 duplication detected by arrayCGH in a patient with intellectuel disability(Nature Publishing Group, 2019) Ozen, Y.; Gurkan, H.; Atli, E.; Atli, E. I.; Akurut, C.; Moustafa, N.; Demir, S.[Abstract Not Available]Öğe PROS AND CONS FOR FLUORESCENT IN SITU HYBRIDIZATION, KARYOTYPING AND NEXT GENERATION SEQUENCING FOR DIAGNOSIS AND FOLLOW-UP OF MULTIPLE MYELOMA(Macedonian Acad Sciences Arts, 2020) Atli, Ikbal E.; Gurkan, H.; Kirkizlar, Onur H.; Atli, E.; Demir, S.; Yalcintepe, S.; Kalkan, R.Multiple myeloma (MM) is one of the plasma cell-related hematological malignancies exceeding 10.0% of all marrow cells, and they make a paraprotein that is a marker of the disease. Myeloma is one of the most common types of hematological malignancies in humans. Genetic biomarkers have been used for prognostic markers in patients diagnosed with MM. The genetic and genomic changes have been identified using karyotyping, fluorescent in situ hybridization (FISH), next generation sequencing (NGS), specifically whole-genome sequencing or exome sequencing. Circulatory plasma cells, circulating free DNA (cfDNA) and microRNAs (miRNAs) comprised in liquid biopsy are potentially used in diagnosis/prognosis of MM. In this study, we analyzed and compared results of karyo-typing, FISH and NGS in 35 MM cases. Diagnostic strategies are expanding rapidly and newly developed NGS-based testing may help the understanding of the complexities of genetic alterations in karyotypically normal cases.Öğe Screening for germline variations of cancer related genes in patients with the diagnosis of different cancers and hereditary cancer predisposition syndromes(Nature Publishing Group, 2019) Demir, S.; Tozkur, H.; Gurkan, H.; Atli, E.; Eker, D.; Tezel, H. A.; Sezer, Y. A.[Abstract Not Available]
