Advertisement

Humangenetik

, Volume 12, Issue 3, pp 244–254 | Cite as

A case of 46,XY/45,X/46,XX intersex

  • E. Moneta
  • A. Serra
  • N. Garcea
  • L. Chessa
  • M. Vincenzoni
Original Investigations

Summary

A case of 46,XY/45,X/46,XX mosaicism in a phenotypic intersex is decribed in detail. A few relevant aspects, which emerge especially from the phenotypic and karyotypic analysis, are briefly commented upon.

Keywords

Internal Medicine Metabolic Disease Relevant Aspect Karyotypic Analysis Phenotypic Intersex 
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.

Zusammenfassung

Es wird ein Fall von Mosaicismus 46,XY/45,X/46,XX beschrieben. Einige Aspekte, die aus der phänotypischen und karyotypischen Analyse des Patienten hervorgehen, sind kurz kommentiert.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Ferguson-Smith, M. A.: Karyotype-phenotype correlation in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet.2, 142–155 (1965).Google Scholar
  2. Ford, C. E.: Mosaics and chimaeras. Brit. med. Bull.25, 104–109 (1969).Google Scholar
  3. German, J.: Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses. Clin. Genet.1, 15–27 (1970).Google Scholar
  4. Kinch, R. A. M., Plunkett, E. R., Smouth, M. S., Carr, D. H.: Primary ovarian failure. A clinicopathological and cytogenetic study. Amer. J. Obstet. Gynec.91, 630–644 (1965).Google Scholar
  5. Miller, J. O.: The sex chromosome anomalies. Amer. J. Obstet. Gynec.90, 1078–1139 (1964).Google Scholar
  6. Naidu, P. N., Ramaswamy, S., Rao, K. S.: Gonadoblastoma arising from testicular dysplasia in an intersexual individual. J. Obstet. Gynaec. Brit. Cwlth72, 437–443 (1965).Google Scholar
  7. Netter, A., Bloch-Michel, M., Salomon, Y., Thervet F., De Grouchy, J., Lamy, M.: Etude du caryotype dans la maladie de Stein-Leventhal. Ann. Endocr. (Paris)22, 841–849 (1961).Google Scholar
  8. Pfeiffer, R. A., Lambertz, B., Friederiszick, F. K., Distel, H., Pawlowitzki, I. M., Nicole, R., Ober, K. G., Ruckes, J.: Die nosologische Stellung des XO/XY-Mosaizismus. Arch. Gynäk.206, 369–410 (1968).Google Scholar
  9. Sadasivan, G., Ebenezer, L. N.: Gonadoblastoma (gonocytoma III) with XO/XX/XY mosaicism. Indian J. med. Res.56, 310–313 (1968).Google Scholar
  10. Schuster, J., Motulsky, A. G.: Exceptional sex-chromatin pattern in male pseudohermaphroditism with XX/XY/XO mosaicism. Lancet1962 I, 1074–1075.Google Scholar
  11. Van Campenhout, J., Lord, J., Vauclair, R., Lanthier, A., Berard, M.: The phenotype and gonadal histology in XO/XY mosaic individuals: report of two personal cases. J. Obstet. Gynaec. Brit. Cwlth76, 631–639 (1969).Google Scholar

Copyright information

© Springer-Verlag 1971

Authors and Affiliations

  • E. Moneta
    • 1
    • 2
  • A. Serra
    • 1
    • 2
  • N. Garcea
    • 1
    • 2
  • L. Chessa
    • 1
    • 2
  • M. Vincenzoni
    • 1
    • 2
  1. 1.Institute of Obstetrics and GynecologyCatholic University School of MedicineRomeItaly
  2. 2.Institute of Human Genetics (Director: Prof. A. Serra)Catholic University School of MedicineRomeItaly

Personalised recommendations