De novo X/X translocation in a patient with secondary amenorrhea.

Tarkan Y. , Hacıhanefıoglu S., Sılahtaroglu A., Devıren A., Topcuoglu D., Cenanı A.

Hereditas, vol.122, pp.19-23, 1995 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 122
  • Publication Date: 1995
  • Doi Number: 10.1111/j.1601-5223.1995.00019.x
  • Title of Journal : Hereditas
  • Page Numbers: pp.19-23


A 46,X,t(X;X) (qter --> p22::p22 --> qter) karyotype was found in the chromosome analysis of a 22 years old female patient with secondary amenorrhea. Further analysis with fluorescence in situ hybridization indicated that the marker chromosome had one active and one inactive centromere originating from the X chromosome. RBG-banding showed that the derivative X chromosome was preferentially inactivated in cultured lymphocytes.