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Öğe 46, XX, t(8;9)(q22;p24) balanced translocation carrier with hypogonadotopic hypogonadism(2010) Akbaş H.; Yalinkaya A.; Alp M.N.; Budak T.Balanced autosomal translocations are unusually observed in the patients with hypogonadotropic hypogonadism. The patient with hypogonadotropic hypogonadism had balanced reciprocal translocation involving chromosomes 8 and 9. The patient's father, two brothers and a sister have the same chromosomal translocation with no apparent physicial abnormalities. In this case report; the relation of autosomal translocations mentioned above and hypogonadotropic hypogonadism are discussed.Öğe Hypomelanosis of Ito with trisomy 13 mosaicism(2002) Yakinci C.; Kutlu N.O.; Alp M.N.; Şenol M.; Durmaz Y.; Budak T.The term hypomelanosis of Ito (HI) has been used as a diagnosis for individuals with swirly hypopigmentation or depigmentation distributed along the lines of Blaschko. HI should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. We report a six-month-old severely motor and mental retarded boy with these typical cutaneous lesions associated with extracutaneous features, including facial dysmorphism, polydactyly, and inguinal hernia. The cytogenetic examination of lymphocytes demonstrated a mosaicism of 46, XY, der (13;13) (q10;q10), +13/46, XY. This is the first case reported in the literature showing an association between phylloid pigmentary pattern of hypomelanosis of Ito and trisomy 13 mosaicism.Öğe The incidence and distribution of pericentric inversion of chromosome 9(2003) Balkan M.; Alp M.N.; Budak T.Akthough pericentric inversion of chromosome 9 occurs frequently and draws interests of lot of cytogeneticists, it is not associated with abnormal phenotypes and considered clinically as normal variants. The incidence is said to be about 1% to 1.65 % in the general population. Despite 1 being categorised as a minor chromosomal rearrangement which does not correlate with abnormal phenotypes seen in healthy individuals, some reports in the literature raised conflicting views regarding the association with subfertility and abortions, abnormal clinical conditions and chromosomal abnormalities associated with this inversion. We studied retrospectively the incidence of pericentric inversion of chromosome 9 cases which was referred to our laboratory since 1969 and also analysed peripheral blood karyotypes in specimens collected from 1999 to 2002 and found the incidence to be % 1.65.Öğe A middle aged woman with mosaic turner syndrome: A case report(2011) Simsek S.; Yalinkaya A.; Oral D.; Turkyilmaz A.; Tekes S.; Budak T.Turner syndrome is a disorder of females is characterized by the absence of all or part of a normal second sex chromosome. Turner syndrome occurs in 1 in 4000 live-born girls and approximately 5 to 10 percent of them have mosaic isochromosome 45,X/46,X,i(Xq). Turner syndrome is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Osteoporosis and high risk of fractures are features in adults with Turner syndrome. In this study, we present a delayed case of Turner syndrome with primary amenorrhea, short stature, osteoporosis and high risk of fractures. This case has ignored due to social and economic conditions, therefore we think that the patient can be considered for publication.
