X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations.
A sex-chromatin-positive woman without stunted growth, but with primary amenorrhea, and some stigmas of pure gonadal dysgenesis had the chromosome constitution 45,X/46,Xt(X;X)(q27;q27). The abnormal chromosome formed a large Barr body and was late-labeling. The chromosome consisted of two X chromosomes attached by their long arms (end-to-end), both apparently having the partial distal deletion. Both centromeric regions showed C-staining but only one constriction. The chromosome is interpreted as an isodicentric with only one centromere functioning. Some problems of phenotype-karyotype correlations are discussed.
D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012728:Sex Chromatin; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome