Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter's karyotype: A FISH analysis

Human Genetics

Volumn 99, Issue 4, 1997, Pages 474-477

  Guttenbach, M ^a   Michelmann, H W ^b   Hinney, B ^b   Engel, W ^b   Schmid, M ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 1; CHROMOSOME SEGREGATION; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MALE INFERTILITY; MEIOSIS; PRIORITY JOURNAL; SEX CHROMOSOME; SPERM; SPERMATOGENESIS; X CHROMOSOME; Y CHROMOSOME;

ADULT; CELL NUCLEUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; KLINEFELTER SYNDROME; MALE; SPERMATOZOA; X CHROMOSOME; Y CHROMOSOME;

EID: 0030896411     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050391     Document Type: Article

References (26)

1. Bischoff FZ, Nguyen DD, Burt KJ, Shaffer LG (1994) Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm. Cytogenet Cell Genet 66:237-243
2. Braekeleer de M, Dao T-N (1991) Cytogenetic studies in male infertility: a review. Hum Reprod 6:245-250
3. Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sèle B (1996) Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male. Hum Genet 97:171-175
4. Cooke H (1976) Repeated sequence specific to human males. Nature 262:182-186
5. Cooke HJ: Hindley J (1979) Cloning of human satellite III DNA: different components are on different chromosomes. Nucleic Acids Res 6:3177-3197
6. 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
7. Foss GL, Lewis FJW (1971) A study of four cases with Klinefelter's syndrome, showing motile spermatozoa in their ejaculates. J Reprod Fertil 25:401-408
8. 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
9. Guttenbach M, Martínez-Expósito MJ, Michelmann HW, Kngel W, Schmid M (1997) Incidence of diploid and disomic sperm nuclei in 45 infertile men. Hum Reprod (in press)
10. Han TH, Ford JH, Flaherty SP, Webb GC, Matthews CD (1994) A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male. Clin Genet 45:67-70
11. Harari O, Bourne H, Baker G, Gronow M, Johnston I (1995) High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome. Fertil Steril 63:182-184
12. Kjessler B (1966) Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic. Monogr Hum Genet 2:1-92
13. Laron Z, Dickerman Z, Zamir R, Galatzer A (1982) Paternity in Klinefelter's syndrome - a case report. Arch Androl 8:149-151
14. Michelmann HW (1995) Minimal criteria of sperm quality for insemination and IVF therapy. Int J Androl 18 (Suppl):81-87
15. Miharu N, Best RG, Young SR (1994) Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization. Hum Genet 93:502-506
16. Moosani N, Pattinson HA, Carter MD, Cox DM, Rademaker AW, Martin RH (1995) Chromosomal analysis of sperm from men with idiopathic infertility using karyotyping and fluorescence in situ hybridization. Fertil Steril 64:811-817
17. Nielsen J, Wohlert M (1991) Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark. Hum Genet 87:81-83
18. Sarkar R, Marimuthu KM (1983) Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics. Clin Genet 24:420-428
19. Skakkebaek N, Philip J, Hammen R (1969) Meiotic chromosomes in Klinefelter's syndrome. Nature 221:1075-1076
20. Spriggs EL, Rademaker AW, Martin RH (1995) Aneuploidy in human sperm: results of two-and three-color fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y. Cytogenet Cell Genet 71:47-53
21. Spriggs EL, Rademaker AW, Martin RH (1996) Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction. Am J Hum Genet 58:356-362
22. Terzol G, Lalatta F, Lobbiani A, Simoni G, Colucci G (1992) Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 58:821-822
23. 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
24. Warburg E (1963) A fertile patient with Klinefelter's syndrome. Acta Endocrinol 43:12-26
25. WHO (1992) WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction, 3rd edn. Springer, Berlin Heidelberg New York
26. Willard HF, Smith KD, Sutherland J (1983) Isolation and characterization of a tandem repeat family from the human X chromosome. Nucleic Acids Res 11:2017-2033