Browsing by Author "Yakut, T."
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Publication A fertile patient with 45X/47XXX mosaicism(Medecine Et Hygiene, 2015-01-01) Şahintürk, Serdar; Sağ, Şebnem Özemri; Türe, Mehmet; Görükmez, Orhan; Topak, Ali; Yakut, T.; Gülten, T.; ŞAHİNTÜRK, SERDAR; ÖZEMRİ SAĞ, ŞEBNEM; Türe, Mehmet; Görükmez, Orhan; Topak, Ali; Yakut, T.; Gülten, T.; Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü; 0000-0002-9241-0896; ACQ-9887-2022; AAH-8355-2021; HNQ-2791-2023; ECY-8582-2022; FZW-2060-2022; GIS-1493-2022; EYU-9227-2022A fertile patient with 45X/47XXX mosaicism: Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, widespread nipples, cubitus valgus, short 4th and 5th metacarpals, multiple pigmented nevi, primary amenorrhea, lack of secondary sexual characteristics, cardiovascular and renal anomalies are the most common presentations. Most of the cases are infertile. Spontaneous pregnancy is unusual and the risk for congenital anomaly, spontaneous abortion, stillbirth and aneuploidy is increased. Fifty percent of the patients have classical monosomy X (45,X). However mosaicism of 45,X/47,XXX is rare and accounts for 1.7% of the TS cases. Some cases may not reflect the characteristic phenotype. Some cases with normal height, normal menstrual cyclus and fertility have been defined before. The case we present herein is a 26 years old woman who was admitted to our clinic due to recurrent pregnancy loss. In her medical history she had type 1 diabetes mellitus and endometrium cancer, in her family history her mother had recurrent pregnancy loss. The patient's first, third, fourth, fifth and sixth pregnancies had resulted in spontaneous abortions in the first trimester. She had a healthy daughter with 46,XX karyotype from her second pregnancy. A 45,X[8]/47,XXX[12] karyotype was detected by conventional cytogenetic analysis of the patient who did not have dysmorphic findings. The mosaicism was confirmed by FISH analysis with CEP X probe. Of the 100 cells evaluated, 65 of them had 3 signals of X chromosome while 35 had 1 signal. We present the case because of its scarcity in the literature.Publication A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, maroteaux type(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görükmez, O.; Topak, A.; Görükmez, O.; Türe, M.; Şahintürk, S.; Gülten, T.; Yakut, T.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; ŞAHİNTÜRK, SERDAR; Topak, Ali; Ture, Mehmet; Gulten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; 0000-0002-9241-0896; HNQ-2791-2023; AAH-8355-2021; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, Maroteaux type: Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435C>T p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM.Publication A novel mutation in the fras1 gene in a patient with fraser syndrome(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görukmez, O.; Türe, M.; Şahintürk, S.; Topak, A.; Gülten, T.; Schanze, D.; Yakut, T.; Zenker, M.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; Türe, Mehmet; ŞAHİNTÜRK, SERDAR; Topak, Ali; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; AAH-8355-2021; HNQ-2791-2023; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in the FRAS1 gene in a patient with Fraser syndrome: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.Publication Association between the catechol-o-methyltransferase val158met polymorphism with susceptibility and severity of carpal tunnel syndrome(Sciendo, 2015-01-01) İnal, Erkol E.; Eroğlu, P.; Görükmez, O.; Sağ, Özemri S.; Yakut, T.; ÖZEMRİ SAĞ, ŞEBNEM; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; GIS-1493-2022; AAH-8355-2021Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy of the upper extremity. In this study, we aimed to clarify the relationships between the catechol-O-methyltransferase (COMT) gene Val158Met (rs4680) polymorphism and development, functional and clinical status of CTS. Ninetyfive women with electro diagnostically confirmed CTS and 95 healthy controls were enrolled in the study. The functional and clinical status of the patients was measured by the Turkish version of the Boston Questionnaire and intensity of pain related to the past 2 weeks was evaluated on a visual analog scale (VAS). The Val158Met polymorphism was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), method. We divided patients according to the genotypes of the Val158Met polymorphism as Val/Val, Val/Met and Met/Met. There were not any significant differences in terms of Val158Met polymorphisms between patients and healthy controls (p >0.05). We also did not find any relationships between the Val158Met polymorphism and functional and clinical status of CTS (p >0.05). In conclusion, although we did not find any relationships between CTS and the Val158Met polymorphism, we could not generalize this result to the general population. Future studies are warranted to conclude precise associations.Publication Cadasil in the differential diagnosis of multiple sclerosis: Five case reports(Wiley, 2015-06-01) Taşkapılıoğlu, O.; Görükmez, O.; Uzun, Pınar; Atasay, G.; Hakyemez, Bahattin; Yakut, T.; Bakar, Mustafa; Uzun, Pınar; Atasay, G.; HAKYEMEZ, BAHATTİN; Yakut, T.; BAKAR, HACI MUSTAFA; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Bölümü; Uludağ Üniversitesi/Tıp Fakültesi/Radioloji Bölümü; 0000-0002-9241-0896; AAI-2318-2021; GIK-0439-2022; EML-7784-2022; GIS-1493-2022; EKN-8251-2022Publication Does oxytocin receptor gene polymorphism play a role in the social functioning of children with attention-deficit/hyperactivity disorder(Springer, 2015-06-01) Ayaz, A.; Karkucak, M.; Ayaz, M.; Gökce, S.; Kayan, E.; Güler, E. Erol; Güngen, B. Doğan; Yıldız, T.; Ocakoğlu, G.; Yakut, T.; OCAKOĞLU, GÖKHAN; HLG-6346-2023Publication Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): A case report(Medecine Et Hygiene, 2015-01-01) Görükmez, O.; Görükmez, Orhan; Sağ, Şebnem Özemri; Yakut, T.; Gülten, Tuna; Görükmez, Orhan; ÖZEMRİ SAĞ, ŞEBNEM; Yakut, T.; Gülten, Tuna; Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü; 0000-0002-9241-0896; 0000-0002-9241-0896; AAH-8355-2021; AFZ-0764-2022; GIS-1493-2022; EYU-9227-2022Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): a case report: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome. We report a complex sSMC derived from chromosomes 9 and 8, characterized as der(8;9)(p10;p10) resulting from unbalanced transition of maternal balanced translocation. Besides dysmorphic face and mental-motor retardation, the patient had Dandy-Walker malformation (DWM) in cranial MR also. As far as we are concerned, this is the first complex sSMC case comprising short arms of 8th and 9th chromosomes.Publication Novel mutation of the electron transferring flavoprotein dehydrogenase (ETFDH) gene in the isolated myopathic form of coenzyme q10 deficiency(Medecine Et Hygiene, 2015-01-01) Görükmez, O.; Görükmez, Orhan; Sağ, Şebnem Özemri; Erdöl, Şahin; Sağlam, Halil; Yakut, T.; Görükmez, Orhan; ÖZEMRİ SAĞ, ŞEBNEM; ERDÖL, ŞAHİN; SAĞLAM, HALİL; Yakut, T.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Bölümü; 0000-0002-9241-0896; 0000-0002-9241-0896; 0000-0002-6598-8262; GLN-8241-2022; AFZ-0764-2022; AAH-8355-2021; C-7392-2019Item Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement(Wiley, 2002-11) Yakut, T.; Yalçın, Kimya; Egeli, U.; Özerkan, Kemal; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.; AAH-9791-2021We diagnosed a pure partial trisomy of the long arm of chromosome 1 in a fetus with multiple malformations detected prenatally. The father was a carrier of a balanced rearrangement involving 46,XY,inv(1)(qter-->p36::q32-->qter::p36-->q32). The fetus had preaxial polydactyly, low-set ears, macrocephaly, a prominent forehead, a broad and flat nasal bridge, a small mouth, an arched palate, micrognathia and unilateral renal agenesis. The couple had previously an infant with the same phenotypic abnormalities. The aberration was initially detected on amniocentesis with GTG banding and was confirmed by fluorescence in situ hybridization (FISH). Our case and other published pure trisomy 1q32-44 cases showed similarities, which allowed the further delineation of the trisomy 1q syndrome.Publication Turner syndrome with 45,x/46,x,i(xq)/47,x,i(xq),i(xq) karyotype(Medecine Et Hygiene, 2015-01-01) Görükmez, O.; Sağ, S. Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Gülten, Tuna; Türe, M.; Yakut, T.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; 0000-0002-9241-0896; 0000-0002-9241-0896; AAH-8355-2021