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    A CASE OF TREACHER COLLINS SYNDROME
    (Macedonian Acad Sciences Arts, 2013) Ulusal, S.; Gurkan, H.; Vatansever, U.; Kurkcu, K.; Tozkir, H.; Acunas, B. A.
    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c. 1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c. 1021_1022delAG mutation.
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    A CASE WITH EMANUEL SYNDROME: EXTRA DERIVATIVE 22 CHROMOSOME INHERITED FROM THE MOTHER
    (Macedonian Acad Sciences Arts, 2015) Atli, Ikbal E.; Gurkan, H.; Vatansever, U.; Ulusal, S.; Tozkir, H.
    Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11; 22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11; 22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47,XY,+der(22)t(11;22)(q23.3;q11.2). To ascertain the origin and trait of this supernumerary marker chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46,XX,t(11;22)(q23.3;q11.2).
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    The relationship between methylenetetrahydrofolate reductase c.677TT genotype and oligozoospermia in infertile male patients living in the Trakya region of Turkey
    (Wiley, 2015) Gurkan, H.; Tozkir, H.; Goncu, E.; Ulusal, S.; Yazar, M.
    Methylenetetrahydrofolate reductase (MTHFR), the key enzyme of the folate metabolic pathway, has been reported to be five times more active in the testicles compared to other organs in adult mice. The aim of this study was to investigate the relationship between MTHFR c.677C>T and c.1298A>C polymorphisms and infertility in nonobstructive azoospermic and oligozoospermic male patients living in the Trakya region of Turkey. The study population included 75 nonobstructive azoospermic and 62 oligozoospermic, nonconsanguineous patients who were referred to the Department of Medical Genetics of Trakya University between 01.03.2012 and 01.06.2013 due to infertility and who had been diagnosed based on clinical examinations and spermiograms. All of the patients had a normal karyotype without a Y chromosome microdeletion. Melting curve analysis with labelled probes and primers that were designed by the manufacturers and the real-time polymerase chain reaction method were used. The MTHFR c.677TT genotype frequency in the oligozoospermic infertile male patient group was greater than that of the fertile control group [odds ratio (OR)=2.675 (95% CI: 0.979-7.305), (P<0.048)]. The MTHFR c.677TT genotype may be a genetic risk factor for oligozoospermic infertile male patients who live in the Trakya region of Turkey.