Summary
We describe a male with the karyotype 46,XX/47, XX,+Y(q12→qter), which may be interpreted as due to an insertion (Y;X)(Yq11→Yq12;Xp22) or to mosaicism, 46,XX/47, XX,+Y(12→qter). In any case, some of the H-Y determining genes may be located on the long arm of the Y chromosome.
Similar content being viewed by others
References
Bartsch-Sandhoff M, Schade H, Wiegelmann W, Solbach HG, Scholz W (1974) Ein Beitrag zur Genese von XX-Männern. Humangenetik 21:245–250
Bengtsson B, Gustavson K-H, Reuterskiöld G, Santesson B, Ahsen S (1974) Male pseudohermaphroditism with 45,X/46,XYq- mosaicism in a pair of monozygotic twins. Clin Genet 5:133–143
Berger R, Relier J, Salmon C, Minkowski A (1974) X/XY mosaicism with short Y. Clin Genet 5:211–217
Bostock CJ, Gosden JR, Mitchell AR (1978) Localisation of a malespecific DNA fragment to a sub-region of the human Y chromosome. Nature 272:324–328
Cohen MM, MacGillivray MH, Capraro VJ, Aceto TA (1973) Human dicentric Y chromosomes: case report and review of the literature. J Med Genet 10:74–79
Chapelle A de la, Schröeder J, Murros J, Tallqvist G (1977) Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 11:91–106
Court-Brown WM, Harnden DG, Jacobs PA, Maclean N, Mantle DJ (1964) Abnormalities of the sex chromosome complement in men. Privy Council, Medical Research Council. Spec Rep Series No 305. Her Majesty's Stationary Office, London
Driscoll DJ, Palmer CG, Mellman A (1979) Non homologous association of C-heterochromatin at human male meiotic prophase. Cytogenet Cell Genet 23:23–32
Evans HJ, Buckton KE, Spowart G, Carothers AD (1979) Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum Genet 49:11–31
Ferguson-Smith MA (1966) X-Y chromosomal interchange in the aetiology of true hermaphroditism and of Klinefelter syndrome. Lancet 2:475–476
Fraccaro M, Tiepolo L, Zuffardi O, Chiumello G, Natale B, di Gargantini L, Wolf U (1979) Familial XX true hermaphroditism and the H-Y antigen. Hum Genet 48:45–52
Hofgärtner FJ, Schmid M, Krone W, Zenzes MT, Engel W (1979) Pattern of activity of nucleolus organizers during spermatogenesis in mammals as analyzed by silver-staining. Chromosoma 71:197–216
Koo GC, Wachtel SS, Krupen-Brown K, Mitte LR, Breg WR, Genel M, Rosenthal IM, Borgaonkar DS, Miller DA, Tantravahi A, Schreck RR, Erlanger BF, Miller OJ (1977) Mapping the locus of the H-Y gene on the human Y chromosome. Science 198:940–942
Madan K (1976) Chromosome measurements on an XXp+ male. Hum Genet 32:141–142
Madan K, Walker S (1974) Possible evidence for Xp+ in a male. Lancet 1:1233
Moses MJ, Counce SJ, Paulson DF (1975) Synaptonemal complex complement of man in spreads of spermatocytes, with details of the sex chromosome pair. Science 187:363–365
Narahara K, Yabuuchi H, Kimura S, Kimoto H (1978) A case of a reciprocal translocation between the Y and I chromosomes. Jpn J Hum Genet 23:225–231
Schweizer D, Ambros P, Andrle M (1978) Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, Distamycin A. Exp Cell Res 111: 327–332
Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the non fluorescent portion of the human Y chromosome long arm. Hum Genet 34:119–124
Wachtel SS (1977) H-Y antigen and the genetics of sex determination. Science 198:797–799
Wachtel SS, Basrur P, Koo GC (1978) Recessive male-determining genes. Cell 15:279–281
Wachtel SS, Koo GC, Breg WR, Thaler HT, Dillard GM, Rosenthal IM, Dosik H, Gerald PS, Saenger P, New M, Lieber E, Miller OJ (1976) Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites. N Engl J Med 295:750–754
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Miró, R., Caballín, M.R., Coll, M.D. et al. An XX male with a 46,XX/47,XX,+Y(q12→qter) karyotype. Hum Genet 60, 82–84 (1982). https://doi.org/10.1007/BF00281272
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00281272