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 to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
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
Fisher JM, Harvey JF, Lindenbaum RH, Boyd PA, Jacobs PA (1993) Molecular studies of trisomy 18. Am J Hum Genet 52:1139–1144
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
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
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
Holmes JM, Martin RH (1993) Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization. Hum Genet 91:20–24
Hook EB (1983) Rates of chromosomal abnormalities detected at different maternal ages. Obstet Gynecol 58:282–285
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
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
Kupke KG, Müller U (1989) Parental origin of the extra chromosome in trisomy 18. Am J Hum Genet 45:599–605
Martin RH, Rademaker A (1990) The frequency of aneuploidy among individual chromosomes in 6821 human sperm chromosome complements. Cytogenet Cell Genet 53:103–107
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
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
Nielsen J, Sillesen I (1975) Incidence of chromosome aberrations among 11148 newborn children. Hum Genet 30:1–12
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
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
Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. de Gruyter, Berlin
Taylor A (1968) Autosomal trisomy syndromes. A detailed study of 17 cases of Edwards syndrome. J Med Genet 5:227–252
Therman E (1986) Human chromosomes: structure, behaviour, effects. Springer, Berlin Heidelberg New York
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
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
- Internal Medicine
- Metabolic Disease
- Healthy Donor
- Sperm Cell
- Human Sperm