Abstract
A chromosomal mosaic XO/XY (+estra chromosome) with unequal distribution of the cells lines in blood cells and in fibroblasts is described in a boy with typical traits of Turner's syndrome.
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Ross, G. T., J. M. Holland, W. S. Kiser, and G. W. Douglas: XO/XY chromosomal mosaicism and extragenital stigmata of Turner's syndrome in a phenotypic male. J. clin. Endocr. 25, 141 (1965).
Schoen, E. J.: Diminished testicular function in male Turner's syndrome. J. clin. Endocr. 25, 101 (1965).
Oikawa, K., and R. Blizzard: Chromosomal studies of patients with congenital anomalies simulating those of gonadal aplasia. New Engl. J. Med. 264, 1009 (1961).
Solomon, I. L., Ch. W. Hamm, and O. C. Green: Chromosome studies on testicular tissue cultures and blood leukocytes of a male previously reported to have no Y chromosome. New Engl. J. Med. 271, 586 (1964).
Klevit H. D., W. J. Mellman, and W. R. Eberlein: Triple mosaicism with an isochromosome derived from a partially deleted Y in a male pseudohermaphrodite. Pediatries 32, 56 (1963).
Pers. Observations, 1965.
Scharfenberg, W.: Inaug.-Diss. Münster 1967.
Ferguson-Smith, M. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet. 2, 142 (1965).
Bloise, W., L. M. de Assis, C. Bottura, and I. Ferrari: Gonadal dysgenesis (Turner's syndrome) with male phenotype and XO chromosomal constitution. Lancet 1960/II, 1059.
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Pfeiffer, R.A., Pawlowitzki, I.H. Turner's syndrome in the male with chromosomal mosaicism. Hum Genet 4, 136–139 (1967). https://doi.org/10.1007/BF00291258
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DOI: https://doi.org/10.1007/BF00291258