Skip to main content
SpringerLink
Log in

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

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • 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

    Google Scholar 

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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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)

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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  • 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

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Humangenetik der Universität, Biozentrum, Am Hubland, D-97074, Würzburg, Germany

    Martina Guttenbach, Renate Schakowski & Michael Schmid

Authors
  1. Martina Guttenbach
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Renate Schakowski
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Michael Schmid
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

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). https://doi.org/10.1007/BF00201667

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00201667

Keywords

Search

Navigation