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Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

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Summary

An unbalanced X/Y translocation was found in a male child with malformed external genitalia and in his mother, who are respectively nullisomic and monosomic for the distal portion of Xp and have the translocated distal segment of Yq in excess. The loss of the distal portion of Xp is supposed to be the cause of the phenotypic abnormalities present in these subjects. The phenotype of our subjects is compared with those of the other cases of X/Y translocation described in the literature.

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References

  1. Berghe, H. van den, Petit, P., Fryns, J. P.: Y to X translocation in man. Hum. Genet. 36, 129–141 (1977)

  2. Borgaonkar, D. S., Sroka, B. M., Flores, M.: Y to X translocation in a girl. Lancet 1974I, 68–69

  3. Fonatsch, C., Flatz, S. D., Freymann, R.: Nonfluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism. Clin. Genet. 11, 235–240 (1977)

  4. Fraccaro, M., Maraschio, P.: Genetic conditions affecting gamete production in the human female. In: Ovulation in the human, P. G. Crosignani and D. R. Mishell, eds., pp. 41–46. London: Academic Press 1976

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Correspondence to L. Tiepolo.

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Tiepolo, L., Zuffardi, O. & Rodewald, A. Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Hum Genet 39, 277–281 (1977). https://doi.org/10.1007/BF00295420

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Distal Portion
  • Distal Segment
  • Male Child