Yıl 2019, Cilt: 11 Sayı : 1 Sayfalar 17 - 25 2019-06-27
Klinefelter’s syndrome and social handicaps in Southeast of Turkey.
Diclehan ORAL,Selda ŞİMŞEK,Ayşegül TÜRKYILMAZ,İlyas YÜCEL,Selahattin TEKES,Mahmut BALKAN
19 261

Öz 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 birthsIn 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.

Anahtar Kelimeler

Chromosomal abnormality, Male infertility
1- Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Meta(1942) b.;2:615–627.
Birincil Dil en
Konular Genel ve Dahili Tıp
Yayımlanma Tarihi 27 Haziran 2019
Bölüm Araştırma
Yazarlar Orcid : 0000-0002-0074-0602Yazar: Diclehan ORAL (Sorumlu Yazar)

Orcid : 0000-0002-1585-7379Yazar: Selda ŞİMŞEK

Orcid : 0000-0002-0995-8704Yazar: Ayşegül TÜRKYILMAZ

Orcid : 0000-0002-4446-0469Yazar: İlyas YÜCEL

Orcid : 0000-0002-4446-0469Yazar: Selahattin TEKES

Orcid : 0000-0002-4446-0469Yazar: Mahmut BALKAN

Tarihler

Yayımlanma Tarihi : 27 Haziran 2019


Makalenin Yazarları
Diclehan ORAL
Selda ŞİMŞEK
Ayşegül TÜRKYILMAZ
İlyas YÜCEL
Selahattin TEKES
Mahmut BALKAN