A case presentation of Turner's Syndrome with X isochromosome X i̇zokromozomuna sahip Turner Sendrom'lu bir olgu sunumu

Güven A., Koçak Ş., Aydin M., Ökten G., Oǧur G.

Ondokuz Mayis Universitesi Tip Dergisi, vol.23, no.1, pp.29-32, 2006 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 1
  • Publication Date: 2006
  • Journal Name: Ondokuz Mayis Universitesi Tip Dergisi
  • Journal Indexes: Scopus
  • Page Numbers: pp.29-32
  • Keywords: Isochromosome X, Short stature, Turner's Syndrome
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

Classic Turner's Syndrome which has severe findings is the most common cytogenetic type of Turner's Syndrome. i(Xq) isochromosome is also a common cytogenetic abnormality and cases have generally milder clinics than classic Turner's Syndrome. In this report, we present a case of Turner's Syndrome with a characteristic isochromosome i(Xq) structure which exhibits a milder clinical finding due to the lack of signs such as low posterior hairline, prominent webbed neck, shield chest, kidney and congenital heart abnormalities.