X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations

Abstract

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.

DOI: 10.1007/BF00272185

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@article{Mirzayants1978XXTI, title={X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations}, author={G. G. Mirzayants and Ljudmila I. Baranovskaya}, journal={Human Genetics}, year={1978}, volume={40}, pages={249-257} }