Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 Apr;62(4):937–940. doi: 10.1086/301796

Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite.

J C Giltay 1, T Brunt 1, F A Beemer 1, J M Wit 1, H K van Amstel 1, P L Pearson 1, C Wijmenga 1
PMCID: PMC1377036  PMID: 9529354

Abstract

True hermaphroditism in humans usually is associated with a 46,XX karyotype or with mosaicism in which admixtures of cells with an XX and an XY karyotype are seen. However, the mechanisms that cause such mosaicisms are poorly understood. To date, with rare exceptions, analyses of hermaphrodites have been limited mostly to cytogenetic investigations. In this report, we describe a 5-year-old patient with true hermaphroditism and a 46,XX/46,XY karyotype (ratio 38:12) in lymphocytes, suggesting involvement of two fertilization events. Microsatellite DNA polymorphisms distributed throughout the genome were analyzed, to investigate the origin of the cell lines concerned. The results are consistent with double paternal and single maternal genetic contributions. Possible mechanisms that would explain these findings are discussed. The most likely mechanism involves a single haploid ovum dividing parthenogenetically into two haploid ova, followed by double fertilization and fusion of the two zygotes into a single individual, at the early embryonic stage.

Full Text

The Full Text of this article is available as a PDF (205.9 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Fitzgerald P. H., Donald R. A., Kirk R. L. A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes. Clin Genet. 1979 Jan;15(1):89–96. doi: 10.1111/j.1399-0004.1979.tb02032.x. [DOI] [PubMed] [Google Scholar]
  2. Green A. J., Barton D. E., Jenks P., Pearson J., Yates J. R. Chimaerism shown by cytogenetics and DNA polymorphism analysis. J Med Genet. 1994 Oct;31(10):816–817. doi: 10.1136/jmg.31.10.816. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Minowada S., Hara M., Shinohara M., Ishida H., Fukutani K., Isurugi K., Niijima T., Hayashida Y., Miki T., Kishi K. Investigation of genetic markers in a true hermaphrodite with chi 46,XX/46,XY. Hum Genet. 1982;60(4):376–378. doi: 10.1007/BF00569224. [DOI] [PubMed] [Google Scholar]
  5. Nyberg R. H., Haapala A. K., Simola K. O. A case of human chimerism detected by unbalanced chromosomal translocation. Clin Genet. 1992 Nov;42(5):257–259. doi: 10.1111/j.1399-0004.1992.tb03251.x. [DOI] [PubMed] [Google Scholar]
  6. Plachot M., Crozet N. Fertilization abnormalities in human in-vitro fertilization. Hum Reprod. 1992 Jun;7 (Suppl 1):89–94. doi: 10.1093/humrep/7.suppl_1.89. [DOI] [PubMed] [Google Scholar]
  7. Schoenle E., Schmid W., Schinzel A., Mahler M., Ritter M., Schenker T., Metaxas M., Froesch P., Froesch E. R. 46,XX/46,XY chimerism in a phenotypically normal man. Hum Genet. 1983;64(1):86–89. doi: 10.1007/BF00289485. [DOI] [PubMed] [Google Scholar]
  8. Strain L., Warner J. P., Johnston T., Bonthron D. T. A human parthenogenetic chimaera. Nat Genet. 1995 Oct;11(2):164–169. doi: 10.1038/ng1095-164. [DOI] [PubMed] [Google Scholar]
  9. Taylor A. S., Braude P. R. The early development and DNA content of activated human oocytes and parthenogenetic human embryos. Hum Reprod. 1994 Dec;9(12):2389–2397. doi: 10.1093/oxfordjournals.humrep.a138457. [DOI] [PubMed] [Google Scholar]
  10. Uehara S., Nata M., Nagae M., Sagisaka K., Okamura K., Yajima A. Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY. Fertil Steril. 1995 Jan;63(1):189–192. doi: 10.1016/s0015-0282(16)57317-8. [DOI] [PubMed] [Google Scholar]
  11. Van Blerkom J., Davis P. W., Merriam J. A retrospective analysis of unfertilized and presumed parthenogentically activated human oocytes demonstrates a high frequency of sperm penetration. Hum Reprod. 1994 Dec;9(12):2381–2388. doi: 10.1093/oxfordjournals.humrep.a138456. [DOI] [PubMed] [Google Scholar]
  12. Wit J. M., Quartero A. O., Bax N. M., Huber J. A phenotypic male with true hermaphroditism and a 46,XX/46,XY/47,XXY karyotype. Clin Genet. 1987 Apr;31(4):243–248. doi: 10.1111/j.1399-0004.1987.tb02802.x. [DOI] [PubMed] [Google Scholar]
  13. van Niekerk W. A., Retief A. E. The gonads of human true hermaphrodites. Hum Genet. 1981;58(1):117–122. doi: 10.1007/BF00284158. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES