X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis.
An unbalanced X-autosome translocation was observed in a patient with primary amenorrhea, Turner phenotype and bilateral streak gonads. The karyotype of the proposita was 45,X,-X,+der(6),t(X;6). Autoradiography and BUDR pretreatment revealed differential inactivation of the X chromosomes. Sex chromatin pattern was in good agreement with the types of the X inactivation. Our finding brings out some further questions regarding inactivation of the human X chromosome and the human X chromosome and the related phenotypical changes.
D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007621:Karyotyping; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome