Humangenetik

, Volume 19, Issue 3–4, pp 349–352

De novo translocation t(Yq−; 15p+) in a malformed boy

  • R. A. Pfeiffer
  • L. Bier
  • F. Majewski
  • K. Rager
Clinical Case Reports

Summary

De novo translocation of an important portion of the long arm of the Y chromosome to the short arm of No. 15 was observed in a mentally defective boy exhibiting several abnormal features: cleft palate, contracted fingers, synostosis of the 4th and 5th metatarsal bones, narrow iliac wings. Endocrinological studies suggest extreme hypogonadism.

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References

  1. Bühler, E.: Personal communication. 3. 4. 1973Google Scholar
  2. Bühler, E., Müller, H. J., Stalder, G. R., Werder, E.: A strongly fluorescent abnormal chromosome in a malformed boy. Humangenetik 12, 64–66 (1971) (also: Intenat. Congr. Pediatrics Vienna 1971, V/7, 49–51)Google Scholar
  3. de Grouchy, J., Josso, N., Lamy, M., Frézal, J., Nézélof, C., Feintuch, G.: Syndrôme de Klinefelter chez un nourrisson hypospade. Ann. Pédiat. 39, 173–177 (1963)Google Scholar
  4. Federman, D. D., Davidoff, F. M., Ouellette, E.: Presumptive Y/D translocation in mixed gonadal dysgenesis. J. med. Genet. 4, 36–40 (1967)Google Scholar
  5. Frias de Sa, M. C., Silveira, L.: A case of primary amenorrhoea with probable Y/D translocation. Rev. iber. Endocr. 15, 423–429 (1968) (cit. after Krmpotic et al.)Google Scholar
  6. Friedrich, U., Nielsen, J.: Presumptive Y-15 and Y-22 translocation in two families. Hereditas (Lund) 71, 339–342 (1972)Google Scholar
  7. Fründ, S., Koske-Westphal, Th., Fuchs-Mecke, S., Passarge, E.: Quinacrine mustard fluorescence of a second Y chromosome in a Y-autosomal translocation. Humangenetik 14, 133–136 (1972)Google Scholar
  8. Genest, P., Bouchard, M., Bouchard, J.: A satellited human Y chromosome: an evidence of autosome gonosome translocation, a preliminary note. Canad. J. Genet. Cytol. 9, 589–595 (1967)Google Scholar
  9. Krmpotic, E., Szego, K., Modestas, R., Molabola, G. B.: Localization of male determining factor on short arm of Y chromosome. Clin. Genet. 3, 381–387 (1972)Google Scholar
  10. Lundsteen, C., Philip, J.: Y/22 translocation in a YY male. Cytogenet. Cell Genet. 12, 53–59 (1973)Google Scholar
  11. Nakagome, Y. H., Smith, D., Sonkup, S. W.: A presumptive Y-autosome translocation in a boy with congenital malformations. Amer. J. Dis. Child. 116, 205–210 (1968)Google Scholar
  12. Noël, B., Emerit, I., Luciani, J. M., Quack, B.: A familial Y/autosome translocation in man. Clin. Genet. 2, 1–16 (1971)Google Scholar
  13. Schmid, W.: Satellites on the long Y chromosome arm: a familial Y/autosome translocation in man. Cytogenetics 8, 415–426 (1969)Google Scholar
  14. Van den Berghe, H., Steeno, O., Verresen, H., Moor P. de: Hypogonadism associated with chromosomal break in autosome no. 2 and translocation presumably on the Y chromosome. J. clin. Endocr. 25, 1246–1250 (1965)Google Scholar

Copyright information

© Springer-Verlag 1973

Authors and Affiliations

  • R. A. Pfeiffer
    • 1
  • L. Bier
    • 1
  • F. Majewski
    • 2
  • K. Rager
    • 2
  1. 1.Abteilung für Klinische Genetik und Cytogenetik im Institut für Humangenetik der Universität MünsterMünsterGermany
  2. 2.Universitäts-Kinderklinik TübingenTübingenGermany

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