Summary
This paper reports a rare case of complicated karyotype :45,X/47,XY,+18,−19,+der(19),t(Y;19)(q12;p13.3). The culture of skin fibroblasts, however, showed only 45,X cells. The patient, 14-year-old girl, exhibited Turner syndrome and mixed gonadal dysgenesis. There were no clinical features of 18 trisomy except for a short sterunum and moderate mental retardation. The inconsistency of the phenotype with the observed karyotype is discussed.
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References
Schinzel, A., Schmid, W., and Prader, A. 1974. Turner phenotype: Mosaic 45,X/47,XY,+18.J. Med. Genet. 11: 101–104.
Serville, F., Fontan, D., Laurent, C., Cazauran, J.M., and Verger, P. 1977. Mosaic 45,X/47,XY,+18.Hum. Genet. 36: 351–353.
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Niihira, S., Fujita, H., Otzuka, N. et al. A 14 year-old girl with turner syndrome of complicated karyotype; 45,X/47,XY,+18,−19,+der(19),t(Y;19)(q12;p13.3). Jap J Human Genet 30, 307–311 (1985). https://doi.org/10.1007/BF01907968
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DOI: https://doi.org/10.1007/BF01907968