DE-NOVO X/X TRANSLOCATION IN A PATIENT WITH SECONDARY AMENORRHEA

Abstract

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.