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Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization

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Nonradioactive in situ hybridization with an α-satellite DNA probe specific for chromosome 18 was performed on human interphase sperm nuclei to detect the frequency of sperm cells disomic for chromosome 18. A total of 16127 sperm heads from eight healthy donors, aged 23–57 years, was investigated, and a minimum of 2000 sperm nuclei per proband was analyzed. The disomy rate ranged from 0.25% to 0.5%, with an average of 0.36%. This frequency does not differ significantly from that determined for other chromosomes.

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  1. 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 28:18–22

  2. Fisher JM, Harvey JF, Lindenbaum RH, Boyd PA, Jacobs PA (1993) Molecular studies of trisomy 18. Am J Hum Genet 52:1139–1144

  3. 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

  4. Guttenbach M, Schmid M (1991) Non-isotopic detection of chromosome 1 in human meiosis and demonstration of disomic sperm nuclei. Hum Genet 87:261–265

  5. Guttenbach M, Schakowski R, Schmid M (1994). Incidence of chromosome 3, 7, 10, 11, 17, and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybrization. Hum Genet (in press)

  6. Hassold TJ, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18:69–97

  7. Holmes JM, Martin RH (1993) Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization. Hum Genet 91:20–24

  8. Hook EB (1983) Rates of chromosomal abnormalities detected at different maternal ages. Obstet Gynecol 58:282–285

  9. Jackson-Cook C, Haller VL (1991) Estimation of aneuploidy levels in human spermatozoa using chromosome complements and chromosome specific probes. Am J Hum Genet 49 [Suppl]:A18

  10. Kondoh T, Tonoki H, Matsumoto T, Tsukahara M, Niikawa N (1988) Origin of the extra chromosome in trisomy 18. A study on five patients using a restriction fragment length polymorphism. Hum Genet 79:377–378

  11. Kupke KG, Müller U (1989) Parental origin of the extra chromosome in trisomy 18. Am J Hum Genet 45:599–605

  12. Martin RH, Rademaker A (1990) The frequency of aneuploidy among individual chromosomes in 6821 human sperm chromosome complements. Cytogenet Cell Genet 53:103–107

  13. 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

  14. Martin RH, Ko E, Chan K (1993) Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH). Cytogenet Cell Genet 64:23–26

  15. Nielsen J, Sillesen I (1975) Incidence of chromosome aberrations among 11148 newborn children. Hum Genet 30:1–12

  16. Pieters MHEC, Geraedts JPM, Meyer H, Dumoulin JCM, Evers JLH, Jongbloed RJE, Nederlof PM, Flier S van der (1990) Human gametes and zygotes studied by nonradioactive in situ hybridization. Cytogenet Cell Genet 53:15–19

  17. Robbins WA, Segraves R, Pinkel D, Wyrobek AJ (1993) Detection of aneuploid human sperm by fluorescence in situ hybridization: evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y. Am J Hum Genet 52:799–807

  18. Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. de Gruyter, Berlin

  19. Taylor A (1968) Autosomal trisomy syndromes. A detailed study of 17 cases of Edwards syndrome. J Med Genet 5:227–252

  20. Therman E (1986) Human chromosomes: structure, behaviour, effects. Springer, Berlin Heidelberg New York

  21. Ya-gang X, Robinson WP, Spiegel R, Binkert F, Ruefenacht U, Schinzel AA (1993) Parental origin of the supernumerary chromosome in trisomy 18. Clin Genet 44:57–61

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Correspondence to Michael Schmid.

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Guttenbach, M., Schakowski, R. & Schmid, M. Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization. Hum Genet 93, 421–423 (1994).

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  • Internal Medicine
  • Metabolic Disease
  • Healthy Donor
  • Sperm Cell
  • Human Sperm