X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations
- 1 January 1978
- journal article
- conference paper
- Published by Springer Nature in Human Genetics
- Vol. 40 (3), 249-257
- https://doi.org/10.1007/bf00272185
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.Keywords
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