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. 1980 Feb;17(1):62–66. doi: 10.1136/jmg.17.1.62

47,XXX chromosome constitution in a male.

U Bigozzi, G Simoni, E Montali, L Dalpra, F Rossella, M Piazzini, A Borghi
PMCID: PMC1048493  PMID: 7189218

Abstract

An 18-year-old boy with a male phenotype was examined because of testicular hypoplasia. Chromosome analysis using Q- and R-banding techniques and BUdR treatment showed a 47,XXX karotype, in both lymphocytes and fibroblasts. Cytogenetic problems raised by this case are discussed in relation to data from previous published reports.

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Selected References

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

  1. Bartsch-Sandhoff M., Schade H., Wiegelmann W., Solbach H. G., Scholz W. Ein Beitrag zur Genese von XX-Männern. Humangenetik. 1974;21(3):245–253. doi: 10.1007/BF00279019. [DOI] [PubMed] [Google Scholar]
  2. Dosik H., Wachtei S. S., Khan F., Spergel G., Koo G. C. Y-chromosomal genes in a phenotypic male with a 46XX karyotype. JAMA. 1976 Nov 29;236(22):2505–2508. [PubMed] [Google Scholar]
  3. 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]
  4. Ferguson-Smith M. A. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet. 1966 Aug 27;2(7461):475–476. doi: 10.1016/s0140-6736(66)92778-4. [DOI] [PubMed] [Google Scholar]
  5. Krmpotic E., Szego K., Modestas R., Molabola G. B. Localization of male determining factor on short arm of Y chromosome. Case report of a baby with 46, x, t (Yp+;14q-). Clin Genet. 1972;3(5):381–387. doi: 10.1111/j.1399-0004.1972.tb01471.x. [DOI] [PubMed] [Google Scholar]
  6. Madan K. Chromosome measurements on an XXp+ male. Hum Genet. 1976 May 19;32(2):141–142. doi: 10.1007/BF00291496. [DOI] [PubMed] [Google Scholar]
  7. Miró R., Caballín M. R., Marina S., Egozcue J. Mosaicism in XX males. Hum Genet. 1978 Nov 24;45(1):103–106. doi: 10.1007/BF00277581. [DOI] [PubMed] [Google Scholar]
  8. Pawlowitzki I. H., Holzgreve W., Kövary M., Niermann H., Scholz W. Testing mosaicism hypothesis in an XX male. Ann Genet. 1978 Sep;21(3):152–156. [PubMed] [Google Scholar]
  9. Powers H. O., Neu R. L., Smulyan H., Gardner L. I. An adult phenotypic male with a 46,XX chromosome complement. J Clin Endocrinol Metab. 1970 Nov;31(5):576–579. doi: 10.1210/jcem-31-5-576. [DOI] [PubMed] [Google Scholar]
  10. Rios M. E., Kaufman R. L., Sekhon G. S., Bucy J. G., Bauman J. E., Jacobs L. S. An XX male: cytogenetic and endocrine studies. Clin Genet. 1975 Feb;7(2):155–162. doi: 10.1111/j.1399-0004.1975.tb00312.x. [DOI] [PubMed] [Google Scholar]
  11. Tiepolo L., Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976 Oct 28;34(2):119–124. doi: 10.1007/BF00278879. [DOI] [PubMed] [Google Scholar]
  12. Wachtel S. S., Koo G. C., Breg W. R., Thaler H. T., Dillard G. M., Rosenthal I. M., Dosik H., Gerald P. S., Saenger P., New M. Serologic detection of a y-linked gene in xx males and xx true hermaphrodites. N Engl J Med. 1976 Sep 30;295(14):750–754. doi: 10.1056/NEJM197609302951403. [DOI] [PubMed] [Google Scholar]
  13. de la Chapelle A. Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet. 1972 Jan;24(1):71–105. [PMC free article] [PubMed] [Google Scholar]

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