Human Genetics

, Volume 55, Issue 3, pp 407–408

Chimerism 46,XX/46,XY in a phenotypic female

  • A. Genčík
  • A. Genčíková
  • M. Hrubiško
  • O. Mergancová
Clinical Case Reports

Summary

A female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the AB0 blood group system by the presence of two different erythrycyte populations, A10 and 00. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient.

References

  1. Bain AD, Scott JS (1965) Mixed gonadal dysgenesis with XX/XY mosaicism. The evidence for the occurrence of fertilization by two spermatozoa in man. Lancet I:1035Google Scholar
  2. Benirschke K (1971) Chimerism, Mosaicism and hybrids. In: Human Genetics (Proceedings of the Fourth International Congress of Human Genetics, Paris, 6–11 September 1871) Excerpta Medica 1972, Amsterdam, p 212–231Google Scholar
  3. Benirschke K, Naftolin F, Gittes R, Khudr G, Yen SSC, Allen FH (1972) True hermaphroditism and chimerism. Am J Obstet Gynecol 113:449–458Google Scholar
  4. Ford EHR (1973) Human Chromosomes. Academic Press, London New York, p 212Google Scholar
  5. Hamerton JL (1971) Human Cytogenetics, vol II. Academic Press, London New York, pp 142–156Google Scholar
  6. Race RR, Sanger R (1975) Blood Groups in Man, 5th ed, Chapter 23. Blackwell Scientific PublicationsGoogle Scholar
  7. Robinson AE, North D, Horsfield GJ, Kelly F (1976) A case of twin chimerism. J Med Genet 13:528–530Google Scholar
  8. Sakamoto K, Kuroki Y, Fujisawa Y, Yoshimine K, Morita J, Kikuchi M (1978) XX/XY chromosomal mosaicism presenting a chordee without hypospadias associated with scrotal transposition. J Urol 119:841–843Google Scholar
  9. Simpson JL (1976) Disorders of Sexual Differentiation. Academic Press, London New York San Francisco, pp 239–244Google Scholar

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • A. Genčík
    • 1
  • A. Genčíková
    • 1
  • M. Hrubiško
    • 2
  • O. Mergancová
    • 2
  1. 1.Department of Clinical GeneticsUniversity HospitalBratislavaCzechoslovakia
  2. 2.Department of Hematology and Blood TransfusionUniversity HospitalBratislavaCzechoslovakia

Personalised recommendations