Two turner syndrome patients with the mosaic 45,X/46,X,i(Xq) karyotype: Case report
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, cilt.28, sa.2, ss.236-238, 2008 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 28 Sayı: 2
- Basım Tarihi: 2008
- Dergi Adı: TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.236-238
- Anahtar Kelimeler: Turner syndrome, isochromosomes
- Ondokuz Mayıs Üniversitesi Adresli: Evet
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.