Abstract
Meiotic segregation of gonosomes from a 46,XY/47,XXY male was analysed by a three-colour fluorescence in situ hybridisation (FISH) procedure. This method allows the identification of hyperhaploid spermatozoa (with 24 chromosomes), diploid spermatozoa (with 46 chromosomes) and their meiotic origin (meiosis I or 11). Alpha satellite DNA probes specific for chromosomes X, Y and 1 were observed on 27,097 sperm nuclei. The proportions of X-and Y -bearing sperm were estimated to 52.78% and 43.88%, respectively. Disomy (24,XX, 24,YY, 24,X or Y,+1) and diploidy (46,XX, 46,YY, 46,XY) frequencies were close to those obtained from control sperm, whereas the frequency of hyperhaploid 24,XY spermatozoa (2.09%) was significantly increased compared with controls (0.36%). These results support the hypothesis that a few 47,XXY germ cells would be able to complete meiosis and to produce mature spermatozoa.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Berthelsen JG, Skakkebaek NE, Perboll O, Nielsen J (1981) Electron microscopic demonstration of the extra Y chromosome in spermatocytes from human XYY males. In: Byskov AG, Peters H (eds) Development and function of reproduction organs. Excerpta Medica, Amsterdam, pp 328–337
Bischoff FZ, Nguyen DD, Burt KJ, Schaffer LG (1994) Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm. Cytogenet Cell Genet 66: 237–243
Burgoyne PS (1979) Evidence for an association between univalent Y chromosomes and spermatocyte loss in XYY mice and men. Cytogenet Cell Genet 23: 84–89
Chevret E, Rousseaux S, Monteil M, Cozzi J, Pelletier R, Mollard J, Sèle B (1995) Meiotic segregation of chromosomes X, Y and 1 analysed by three-colour FISH on human interphase spermatozoa. Cytogenet Cell Genet 71: 126–130
Coonen E, Pieters MHEC, Dumoulin JCM, Meyer H, Evers JLH, Ramaekers FCS, Geraedts JPM (1991) Nonisotopic in situ hybridization as a method for nondisjunction studies in human spermatozoa. Mol Reprod Dev 28: 12–22
Cozzi J, Chevret E, Rousseaux S, Pelletier R, Benitz V, Jalbert H, Sèle B (1994) Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient. Hum Genet 93: 32–34
Dutrillaux B, Le Lorier G, Salat J, Rotman J. (1971) Incidences des anomalies chromosomiques dans la stérilité masculine. La Presse Méd 27: 1231–1234
Ferguson-Smith MA, Lennox B, Marck WS, Stewart JSS (1957) Klinefelter's syndrome frequency and testicular morphology in relation to nuclear sex. Lancet 2: 167–169
Futterweit W (1967) Spermatozoa in seminal fluid of a patient with Klinefelter's syndrome. Fertil Steril 18: 492–496
Goldman ASH, Fomina Z, Knights PA, Hill CJ, Walker AP, Hultén MA (1993) Analysis of the primary sex ratio chromosome aneuploidy and diploidy in human sperm using dualcolour fluorescence in situ hybridisation. Eur J Hum Genet 1: 325–334
Guttenbach M, Schmid M (1990) Determination of Y chromosome aneuploidy in human sperm nuclei by nonradioactive in situ hybridization. Am J Hum Genet 46: 553–558
Harari O, Bourne H, Backer G, Gronow M, Johnston I (1995) High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome. Fertil Steril 63: 182–184
Hecht F, Hecht BK (1987) Aneuploidy in humans: dimensions, demography, and dangers of abnormal numbers of chromosomes. In: Baldev A, Vig K, Sandberg AA (eds) Progress and topics in cytogenetics. Aneuploidy, part A: Incidence and etiology, pp 9–49
Hultén M (1970) Meiosis in XYY men. Lancet 1: 717–718
Hultén M, Pearson PL (1971) Fluorescent evidence for spermatocytes with two chromosomes in an XYY male. Ann Hum Genet 34: 273–276
Kaplan H, Aspillaga M, Shelley TF, Gardner LI (1963) Possible fertility in Klinefelter's syndrome. Lancet 1: 506
Kjessler B (1966) Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic. Monogr Hum Genet 2: 1–92
Laurent C, Papathanassiou Z, Haour P, Cognat M (1972) Etude mitotique et méiotique de 70 cas de stérilité masculine. Andrologie 5: 193–200
Luciani JM, Mattei A, Devictor-Vuillet M, Rubin P, Stahl A, Vague J (1970) Etude des chromosomes méiotiques dans un cas de maladie de Klinefelter avec spermatogenèse et caryotype 46,XY/47,XXY. Ann Génét (Paris) 13: 249–253
Magid MS, Cash K, Goldstein M (1990) The testicular biopsy in the evaluation of infertility. Semin Urol 4: 51–64
Martin RH, Ko E, Rademaker A (1991) Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. Am J Med Genet 39: 321–331
Rajendra BR, Lee ML, Amorosa L, Sciorra LJ (1981) A study of mitosis, meiosis, histology and scanning electron microscopic details of spermatogenesis in an infertile male with probable 46,XY/47,XXY germinal mosaicism. Am J Med Genet 10: 119–131
Sakar R, Marimuthu RM (1983) Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics. Clin Genet 24: 420–428
Skakkebaek NE, Philip J, Hammen R (1969) Meiotic chromosomes in Klinefelter's syndrome. Nature 221: 1075–1076
Speed RM, Faed MJW, Batstone PJ, Baxby K, Barnetson W (1991) Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet 87: 416–420
Tease C (1990) Sex chromosome configurations in pachytene spermatocytes of an XYY mouse. Genet Res 56: 129–133
Tettenborn U, Gropp A, Murken JD, Tinnefeld W, Fuhrmann W, Schwinger E (1970) Meiosis and testicular histology in XYY males. Lancet 1: 267–268
Van Steirteghem AC, Nagy Z, Joris H, Liu J, Staessen C, Smitz J, Wisanto A, Devrocy P (1993) High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod 7:1061–1066
Vidal F, Navarro J, Templado C, Brusadin S, Egozcue J (1984) Synaptonemal complex studies in a mosaic 46,XY/47,XXY male. Hum Genet 66: 306–308
Williams BJ, Ballenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA, Hassold TJ (1993) Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet 2: 1929–1936
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Chevret, E., Rousseaux, S., Monteil, M. et al. Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male. Hum Genet 97, 171–175 (1996). https://doi.org/10.1007/BF02265260
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02265260