Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Aug;29(8):542–546. doi: 10.1136/jmg.29.8.542

Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.

V Petrovic 1, S Nasioulas 1, C W Chow 1, L Voullaire 1, M Schmidt 1, H Dahl 1
PMCID: PMC1016058  PMID: 1518023

Abstract

A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X,+mar. The marker chromosome was observed in 58% of her blood lymphocytes. It was a small, pale staining, spherical fragment with GTL banding and showed faint differentiation along its length with CBG banding. DNA analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material. In situ hybridisation confirmed that the Y chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads. Gonadectomy was subsequently performed and histological examination showed dysgenetic gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.

Full text

PDF
545

Images in this article

543Image
on p.543
544Image
on p.544
544Image
on p.544
545Image
on p.545
546Image
on p.546

Selected References

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

  1. Bernstein R., Rosendorff J., Ramsay M., Pinto M. R., Page D. C. A unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic and molecular studies. Am J Hum Genet. 1987 Aug;41(2):145–156. [PMC free article] [PubMed] [Google Scholar]
  2. Bishop C., Guellaen G., Geldwerth D., Fellous M., Weissenbach J. Extensive sequence homologies between Y and other human chromosomes. J Mol Biol. 1984 Mar 15;173(4):403–417. doi: 10.1016/0022-2836(84)90388-7. [DOI] [PubMed] [Google Scholar]
  3. Disteche C. M., Casanova M., Saal H., Friedman C., Sybert V., Graham J., Thuline H., Page D. C., Fellous M. Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7841–7844. doi: 10.1073/pnas.83.20.7841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  5. Magenis R. E., Casanova M., Fellous M., Olson S., Sheehy R. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet. 1987 Mar;75(3):228–233. doi: 10.1007/BF00281064. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Page D. C. Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development. 1987;101 (Suppl):151–155. doi: 10.1242/dev.101.Supplement.151. [DOI] [PubMed] [Google Scholar]
  8. Page D. C., Mosher R., Simpson E. M., Fisher E. M., Mardon G., Pollack J., McGillivray B., de la Chapelle A., Brown L. G. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 1987 Dec 24;51(6):1091–1104. doi: 10.1016/0092-8674(87)90595-2. [DOI] [PubMed] [Google Scholar]
  9. Pinkel D., Straume T., Gray J. W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. doi: 10.1073/pnas.83.9.2934. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  11. Sinclair A. H., Berta P., Palmer M. S., Hawkins J. R., Griffiths B. L., Smith M. J., Foster J. W., Frischauf A. M., Lovell-Badge R., Goodfellow P. N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990 Jul 19;346(6281):240–244. doi: 10.1038/346240a0. [DOI] [PubMed] [Google Scholar]
  12. Vergnaud G., Page D. C., Simmler M. C., Brown L., Rouyer F., Noel B., Botstein D., de la Chapelle A., Weissenbach J. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet. 1986 Feb;38(2):109–124. [PMC free article] [PubMed] [Google Scholar]
  13. Verp M. S., Simpson J. L. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet. 1987 Apr;25(2):191–218. doi: 10.1016/0165-4608(87)90180-4. [DOI] [PubMed] [Google Scholar]
  14. Wolfe J., Darling S. M., Erickson R. P., Craig I. W., Buckle V. J., Rigby P. W., Willard H. F., Goodfellow P. N. Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol. 1985 Apr 20;182(4):477–485. doi: 10.1016/0022-2836(85)90234-7. [DOI] [PubMed] [Google Scholar]
  15. Wolfe J., Erickson R. P., Rigby P. W., Goodfellow P. N. Regional localization of 3 Y-derived sequences on the human X and Y chromosomes. Ann Hum Genet. 1984 Jul;48(Pt 3):253–259. doi: 10.1111/j.1469-1809.1984.tb01022.x. [DOI] [PubMed] [Google Scholar]

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

RESOURCES