Two Turner syndrome patients with the mosaic 45,X/46,X,i(Xq) karyotype: Case report 45,X/46,X,i(Xq) karyotipe sahip i̇ki mozaik Turner sendromu olgusu

Güneş S., Kara N., Sürücü B., Ökten G., Yiğit S., SEZER Ö.

Turkiye Klinikleri Journal of Medical Sciences, cilt.28, sa.2, ss.236-238, 2008 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 2
  • Basım Tarihi: 2008
  • Dergi Adı: Turkiye Klinikleri Journal of Medical Sciences
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.236-238
  • Anahtar Kelimeler: Isochromosomes, Turner syndrome
  • Samsun Üniversitesi Adresli: Hayır

Özet

Turner's syndrome is one of the most common chromosomal aneuploidy disorders. Turner's 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's syndrome is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. In this study, we presented 18 year-old two girls having complaints of primary amenorrhea with mosaic 46,X,i(X)(qter→q10:: q10→qter) karyotypes. In the mosaic Turner's syndrome, clinical table was slighter than classic Turner's syndrome as in our cases. Copyright © 2008 by Türkiye Klinikleri.