Summary
A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Caspersson T, Zech L, Johannsson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215–227
Davis RM (1981) Localisation of male-determining factors in man: A thorough review of structural anomalies of the Y chromosome. J Med Genet 18:161–195
Ferguson-Smith MA (1985) The molecular basis of clinical cytogenetics. Presented at the XVIII Symposion of the ESHG, Budapest, May 30–June 2. Book of abstracts
Forabosco A, Carratu A, Assuma M, De Pol A, Dutrillaux B, Cheli E (1977) Male with 45,X karyotype. Clin Genet 12:97–100
Fraccaro M, Lindsten J, Klinger HP, Tiepolo L, Bergstrand CG, Herrlin KM, Livaditis A, Pehrson M, Tillinger KG (1966) Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Ann Hum Genet 29:281–304
Goodpasture C, Bloom SE (1975) Visualization of nucleola organizer regions in mammalian chromosomes using silver staining. Chromosoma 53:37–50
ISCN (1978) An international system for human cytogenetic nomenclature, Cytogenet Cell Genet 21:309–409
ISCN (1981) An international system for human cytogenetics nomenclature high resolution banding. Report of the standing committee in human cytogenetic nomenclature. Cytogenet Cell Genet 31:1–32
Koo GC, Wachtel SS, Krupen-Brown K, Mittl LR, Breg WR, Genel M, Rosenthal IM, Borgaonkar DS, Miller AD, Trantravahi R, Scheck RR, Erlanger BF, Miller OJ (1977) Mapping the locus of the H-Y gene on the human Y chromosome. Science 198:940–942
Lo Curto F, Pucci E, Scappaticci S, Scotta S, Severi F, Burgio GB, Fraccaro M (1974) XO and male phenotype. Am J Dis Child 128:90–91
Page D, de Martinville B, Barker D, Wyman A, White R, Francke U, Botstein D (1982) Single copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci USA 79:5352–5356
Page D, Harper ME, Love J, Botstein D (1984) Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311:119–123
Pfeiffer RA (1974) Cell cultures from blood and bone marrow. In: Schwarzacher HG, Wolf U (eds) Methods in human cytogenetics. Springer, Ferlin Heidelberg New York, pp 1–37
Schempp W, Meer B (1983) Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum Genet 63:171–174
Schempp W, Müller U (1982) High resolution replication patterns of the human Y chromosome intra- and interindividual variation. Chromosoma 86:229–237
Schmid M, Grunert D, Haaf T, Engel W (1983) A direct demonstration of somatically paired heterochromatin of human chromosomes. Cytogenet Cell Genet 36:554–561
Schnedl W (1982) Neue Färbemethoden zur Chromosomendarstellung. Wien Klin Wochenschr 94:210–223
Schnedl W, Abraham R, Dann O, Gerber G, Schweizer D (1981) Freferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15 and Y by D 287/170. Hum Genet 59: 10–13
Schweizer D (1981) Counterstain-enhanced chromosome banding. Hum Genet 57:1–14
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
Smith A, Fraser IS, Elliot G (1979) An infantile male with balanced Y;19 translocation: A review of Y;autosome translocations. Ann Génét (Paris) 24:189–194
Solari AJ (1974) The behaviour of the XY pair in mammals. Int Rev Cytol 38:273–317
Solari AJ, Tres LL (1970) The three-dimensional reconstruction of the XY chromosomal pair in human spermatocytes. J Cell Biol 45:43–53
Šubrt I, Blehová B (1974) Robertsonian translocation between the chromosomes Y and 15. Humangenetik 23:305–309
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306
Stahl A, Hartung M, Devictor M, Bergé-Lefranc J-L (1984) The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: Its possible role in facilitating sex-chromosome acrocentric translocation. Hum Genet 68:173–180
Turleau C, Chavin-Colin F, de Grouchy J (1980) A 45,X male with translocation of euchromatic Y chromosome material. Hum Genet 53:299–302
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Schempp, W., Weber, B., Serra, A. et al. A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15. Hum Genet 71, 150–154 (1985). https://doi.org/10.1007/BF00283372
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00283372