Yazar "Oral D." seçeneğine göre listele

Listeleniyor 1 - 2 / 2
  • [ X ]
    Öğe
    Klinefelter’s syndrome and social handicaps in Southeast of Turkey
    (DergiPark, 2019) Oral D.; Şimşek S.; Türkyılmaz A.; Yücel İ.; Tekes S.; Balkan M.
    The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births In this study we aimed to evaluate the postnatally screened karyotype results in man who were referred diagnosis of Klinefelter syndrome between 1998 and 2010 in the city of Diyarbakir, Southeast Turkey.High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done males diagnosis of Klinefelter syndrome. A total of 552 cases were evaluated retrospectively.One hundred twenty out of 552 (21.74%) cases showed of Klinefelter syndrome.Genetic counseling was provided for the cases that received Klinefelter syndrome results. The rate of gonosomal chromosomal abnormalities was social problem in our region. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems © 2019 Published by International Archives of Medical Research. All rights reserved
  • [ X ]
    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.