Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1980 Aug;17(4):291–300. doi: 10.1136/jmg.17.4.291

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

R Bernstein, T Jenkins, B Dawson, J Wagner, G Dewald, G C Koo, S S Wachtel
PMCID: PMC1048573  PMID: 7193738

Abstract

A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y. Prenatal chromosome studies in a later pregnancy indicated the same chromosomal abnormality in the fetus. The fetus and proband had normal female genitalia and ovarian tissue. H--Y antigen was virtually absent in both sibs, a finding consistent with the view that testis-determining genes of the Y chromosome may be suppressed by regulatory elements of the X. The abnormal X chromosome was present in the mother, the maternal grandmother, and a female sib: all were phenotypically normal and showed the karyotype 46,Xdup(X)(p21 leads to pter) with non-random inactivation of the abnormal X. Anomalous segregation of the Xga allele suggests that the Xg locus was involved in the inactivation process or that crossing-over at meiosis occurred.

Full text

PDF
291

Images in this article

293Image
on p.293
293Image
on p.293
294Image
on p.294
295Image
on p.295
295Image
on p.295
296Image
on p.296
296Image
on p.296
297Image
on p.297

Selected References

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

  1. Bernstein R., Dawson B., Kohl R., Jenkins T. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci. J Med Genet. 1979 Aug;16(4):254–262. doi: 10.1136/jmg.16.4.254. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bernstein R., Wagner J., Isdale J., Nurse G. T., Lane A. B., Jenkins T. X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies. J Med Genet. 1978 Dec;15(6):466–474. doi: 10.1136/jmg.15.6.466. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Dewald G. W., Robb R. A., Gordon H. A computer-based videodensitometric system for studying banded human chromosomes illustrated by the analysis of the normal morphology of chromosome 18. Am J Hum Genet. 1977 Jan;29(1):37–51. [PMC free article] [PubMed] [Google Scholar]
  4. Dutrillaux B., Laurent C., Couturier J., Lejeune J. Coloration des chromosomes humains par l'acridine orange après traitement par le 5 bromodéoxyuridine. C R Acad Sci Hebd Seances Acad Sci D. 1973 Jun 13;276(24):3179–3181. [PubMed] [Google Scholar]
  5. Ford C. E. Cytogenetics and sex determination in man and mammals. J Biosoc Sci Suppl. 1970 May;2:7–30. doi: 10.1017/s0021932000023427. [DOI] [PubMed] [Google Scholar]
  6. German J., Simpson J. L., Chaganti R. S., Summitt R. L., Reid L. B., Merkatz I. R. Genetically determined sex-reversal in 46,XY humans. Science. 1978 Oct 6;202(4363):53–56. doi: 10.1126/science.567843. [DOI] [PubMed] [Google Scholar]
  7. Ghosh S. N., Shah P. N., Gharpure H. M. Absence of H-Y antigen in XY females with dysgenetic gonads. Nature. 1978 Nov 9;276(5684):180–181. doi: 10.1038/276180a0. [DOI] [PubMed] [Google Scholar]
  8. Goding J. W. The chromic chloride method of coupling antigens to erythrocytes: definition of some important parameters. J Immunol Methods. 1976;10(1):61–66. doi: 10.1016/0022-1759(76)90007-7. [DOI] [PubMed] [Google Scholar]
  9. Gropp A., Winking H., Frank F., Noack G., Fredga K. Sex-chromosome aberrations in wood lemmings (Myopus schisticolor). Cytogenet Cell Genet. 1976;17(6):343–358. doi: 10.1159/000130737. [DOI] [PubMed] [Google Scholar]
  10. Jost A. A new look at the mechanisms controlling sex differentiation in mammals. Johns Hopkins Med J. 1972 Jan;130(1):38–53. [PubMed] [Google Scholar]
  11. Kearney R., Chia E., Basten A. Detection of membrane-associated antigens on lymphoid cells by antibody coupled to staphylococcal protein A. J Immunol. 1975 Apr;114(4):1143–1146. [PubMed] [Google Scholar]
  12. Koo G. C., Wachtel S. S., Krupen-Brown K., Mittl L. R., Breg W. R., Genel M., Rosenthal I. M., Borgaonkar D. S., Miller A. D., Tantravahi R. Mapping the locus of the H-Y gene on the human Y chromosome. Science. 1977 Dec 2;198(4320):940–942. doi: 10.1126/science.929180. [DOI] [PubMed] [Google Scholar]
  13. Müller U., Zenzes M. T., Bauknecht T., Wolf U., Siebers J. W., Engel W. Appearance of hCG-receptor after conversion of newborn ovarian cells into testicular structures by H-Y antigen in vitro. Hum Genet. 1978 Dec 18;45(2):203–207. doi: 10.1007/BF00286964. [DOI] [PubMed] [Google Scholar]
  14. Nagai Y., Ciccarese S., Ohno S. The identification of human H-Y antigen and testicular transformation induced by its interaction with the receptor site of bovine fetal ovarian cells. Differentiation. 1979;13(3):155–164. doi: 10.1111/j.1432-0436.1979.tb01578.x. [DOI] [PubMed] [Google Scholar]
  15. Ohno S., Nagai Y., Ciccarese S. Testicular cells lysostripped of H-Y antigen organize ovarian follicle-like aggregates. Cytogenet Cell Genet. 1978;20(1-6):351–364. doi: 10.1159/000130863. [DOI] [PubMed] [Google Scholar]
  16. Priest J. H., Blackston R. D., Au K. S., Ray S. L. Differences in human X isochromosomes. J Med Genet. 1975 Dec;12(4):378–389. doi: 10.1136/jmg.12.4.378. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Rowley J. D. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973 Jun 1;243(5405):290–293. doi: 10.1038/243290a0. [DOI] [PubMed] [Google Scholar]
  18. Silengo M., Kaufman R. L., Kissane J. A 46,XY infant with uterus, dysgenetic gonads and multiple anomalies. Humangenetik. 1974;25(1):65–68. doi: 10.1007/BF00281008. [DOI] [PubMed] [Google Scholar]
  19. Sumner A. T. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res. 1972 Nov;75(1):304–306. doi: 10.1016/0014-4827(72)90558-7. [DOI] [PubMed] [Google Scholar]
  20. Therman E., Patau K. Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik. 1974;25(1):1–16. doi: 10.1007/BF00281002. [DOI] [PubMed] [Google Scholar]
  21. Verma R. S., Lubs H. A. A simple R banding technic. Am J Hum Genet. 1975 Jan;27(1):110–117. [PMC free article] [PubMed] [Google Scholar]
  22. Wachtel S. S., Basrur P., Koo G. C. Recessive male-determining genes. Cell. 1978 Sep;15(1):279–281. doi: 10.1016/0092-8674(78)90103-4. [DOI] [PubMed] [Google Scholar]
  23. Wachtel S. S., Koo G. C., Boyse E. A. Evolutionary conservation of H-Y ('male') antigen. Nature. 1975 Mar 20;254(5497):270–272. doi: 10.1038/254270a0. [DOI] [PubMed] [Google Scholar]
  24. Wachtel S. S., Koo G. C. H-Y antigen and abnormal sex differentiation. Birth Defects Orig Artic Ser. 1978;14(6C):1–7. [PubMed] [Google Scholar]
  25. Wachtel S. S., Koo G. C., Ohno S., Gropp A., Dev V. G., Tantravahi R., Miller D. A., Miller O. J. H-Y antigen and the origin of XY female wood lemmings (Myopus schisticolor). Nature. 1976 Dec 16;264(5587):638–639. doi: 10.1038/264638a0. [DOI] [PubMed] [Google Scholar]
  26. Wachtel S. S., Ohno S. The immunogenetics of sexual development. Prog Med Genet. 1979;3:109–142. [PubMed] [Google Scholar]
  27. Wilson J. D., Goldstein J. L. Classification of hereditary disorders of sexual development. Birth Defects Orig Artic Ser. 1975;11(4):1–16. [PubMed] [Google Scholar]
  28. Yunis J. J. High resolution of human chromosomes. Science. 1976 Mar 26;191(4233):1268–1270. doi: 10.1126/science.1257746. [DOI] [PubMed] [Google Scholar]
  29. Zenzes M. T., Wolf U., Günther E., Engel W. Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue. Cytogenet Cell Genet. 1978;20(1-6):365–372. doi: 10.1159/000130864. [DOI] [PubMed] [Google Scholar]
  30. de la Chapelle A., Koo G. C., Wachtel S. S. Recessive sex-determining genes in human XX male syndrome. Cell. 1978 Nov;15(3):837–842. doi: 10.1016/0092-8674(78)90268-4. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES