Two turner syndrome patients with the mosaic 45,X/46,X,i(Xq) karyotype: Case report

Güneş S., Kara N., Surucu B., Okten G., Yiğit S., Sezer O.

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.28, no.2, pp.236-238, 2008 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 2
  • Publication Date: 2008
  • Journal Name: TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.236-238
  • Keywords: Turner syndrome, isochromosomes
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

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.