Summary
A 28-year-old woman with short stature was found to have bilateral gonadoblastoma in the dysgenetic ovaries. Chromosome banding analysis of her cultured blood cells and skin fibroblasts revealed a terminal deletion of the long arm of the X chromosome, 46,X,del(X)(q21), as the sole karyotypic anomaly. None of the Xq- patients so far reported were associated with gonadoblastoma.
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Seki, T., Fujimoto, S., Abe, S. et al. Long arm deletion of the X chromosome, 46,X,del(X)(q21), associated with gonadoblastoma. Jap J Human Genet 26, 307–312 (1981). https://doi.org/10.1007/BF01876362
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DOI: https://doi.org/10.1007/BF01876362