Genetics and Cytogenetics of Klinefelter’s Syndrome

  • K. D. Zang

Abstract

In 1942 Klinefelter, Reifenstein, and Albright published an article on a syndrome “characterized by gynecomastia, aspermatogenesis without a-Leydi-gism, and increased excretion of follicle-stimulating hormone”. Although Ber-blinger had described a combination of similar clinical symptoms some years previously (1934), Klinefelter et al. were the first to define out of the large and heterogeneous group of primary male hypogonadism a syndrome whose delineation from the other forms and whose nosological homogeneity appeared convincing. Today a definite classification is given by the cytogenetic characterization.

Keywords

Meiotic Division Klinefelter Syndrome Gonadal Dysgenesis Barr Body Normal Segregation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Berblinger W (1934) Hypophysenveränderungen bei schweren Atrophien und Fibrosen der Hoden. Endokrinologie 14:73Google Scholar
  2. Bradbury JT, Bunge RC, Boccabella RA (1956) Chromatin test in Klinefelter’s syndrome. J Clin Endocrinol 16:689CrossRefGoogle Scholar
  3. Carr DH, Gedeon M (1977) Population cytogenetics of human abortuses. In Hook EB, Porter IH (eds) Population cytogenetics. Academic, New York, pp 1–10Google Scholar
  4. Ferguson-Smith MA (1979) Maternal age specific incidence of chromosome aberrations at amniocentesis. In: Murken JD, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 1–14Google Scholar
  5. Ferguson-Smith MA, Johnston AW, Handmaker SD (1960) Primary amentia and microor-chidism associated with an XXXY sex-chromosome constitution. Lancet II:184CrossRefGoogle Scholar
  6. Ford CE, Miller OJ, Polani PE, de Almeida JC, Briggs JH (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis. (Turner’s syndrome). Lancet I:711–713CrossRefGoogle Scholar
  7. Fraccaro M, Klinger HP, Schutt W (1960) A male with XXXXY sex-chromosomes. Cytogenetics 1:52CrossRefGoogle Scholar
  8. Goldschmidt RB (1931) Die sexuellen Zwischenstufen. Springer, Berlin (Monographien aus dem Gesamtgebiete der Pflanzen und Tiere, vol 23)Google Scholar
  9. Jackson WPU, Shapiro BG, Uis CJ, Hoffenberg R (1956) Primary male hypogonadism with female nuclear sex. Lancet II:857CrossRefGoogle Scholar
  10. Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–303PubMedCrossRefGoogle Scholar
  11. Jacobs PA, Brunton M, Melville M, Brittain RP, McClemont WF (1965) Aggressive behaviour, mental subnormality and the XYY-male. Nature 208:1351–1352PubMedCrossRefGoogle Scholar
  12. Klinefelter HF Jr, Reifenstein EC Jr, Albright F (1942) Syndrome characterized by gynecomastia, aspermatogenesis without a — leydigism and increased excretion of follicle — stimulating hormone. J Clin Endocrinol 2:615–627CrossRefGoogle Scholar
  13. Lyon MF (1961) Gene action in the X chromosome of the mouse (Mus musculus L.) Nature 190:372PubMedCrossRefGoogle Scholar
  14. Mikkelsen M (1981) Down syndrome: Current stage of cytogenetic epidemiology. In: Bonné-Tamir B (ed) Human genetics part B — Medical aspects. Proc VI Int Congr Hum Genet Liss, New York, pp 297–310Google Scholar
  15. Muldal S, Ockey CH, Thompson M, White LLR (1960) ‘Double male’, a new chromosome constitution in the Klinefelter syndrome. Lancet II:492CrossRefGoogle Scholar
  16. Nowakowsky H, Lenz W, Parada J (1958) Diskrepanz zwischen Chromatinbefund und genetischem Geschlecht beim Klinefelter-Syndrom. Klin Wochenschr 36:683–684CrossRefGoogle Scholar
  17. Plunkett ER, Barr ML (1956) Testicular dysgenesis affecting the seminiferous tubules principally, with chromatin positive nuclei. Lancet II:853–856CrossRefGoogle Scholar
  18. Ponzio G, Demmarchi M, Gallone G, Fonzo D, Carbonara AO (1980) A case of Klinefelter’s syndrome with 47,Xi(Xq) Y karyotype. J Med Genet 17:152–155PubMedCrossRefGoogle Scholar
  19. Scharrer S, Stengel-Rutkowski S, Rodewald A, Erdlen E, Zang KD (1975) Reproduction in a female patient with Down’s syndrome. Hum Genet 26:207–214Google Scholar
  20. Vogel F, Motulsky AG (1979) Human genetics, problems and approaches. Springer, Berlin Heidelberg New York, p 318fGoogle Scholar
  21. Yamamoto M, Fujimori R, Ito T, Kamimura K, Watanabe G (1975) Chromosome studies in 500 induced abortions. Hum Genet 29:9–14CrossRefGoogle Scholar
  22. Zang KD, Leyking B (1981) Der XYY-Mann. Thieme, Stuttgart, pp 36–57Google Scholar
  23. Zang KD, Singer H, Loeffler L, Souvatsoglou D, Halbfass J, Mehnert H (1969) Klinefelter-Syndrom mit dem Chromosomensatz 47,XXqiY. Klin Wochenschr 47:237–244PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin · Heidelberg 1984

Authors and Affiliations

  • K. D. Zang
    • 1
  1. 1.Institut für HumangenetikUniversität des Saarlandes, UniversitätsklinikenHomburg/SaarGermany

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