Abstract
Two distinct phenotypes of triploid fetuses have been previously described and a correlation with parental origin of the triploidy has been suggested. We have studied the parental origin of the extra haploid set of chromosomes in nine triploid fetuses using analysis of DNA polymorphisms at a variety of loci. Maternal origin of the triploidy (digyny) was demonstrated in six fetuses with type II phenotype, paternal origin (diandry) in two cases with type I phenotype, and nonpaternity in one case. The predominance of digynic triploids in our study contrasts with the results reported in previous studies in which, through analysis of cytogenetic polymorphisms, paternal origin was found to account for the majority of triploid conceptuses. This difference may be accounted for by a combination of factors — the different methods of parental assignment used and analysis of a different subset of triploid conceptuses. The correlation between the observed phenotypes and the parental origin of triploidy may represent another example of imprinting in human development.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Antonarakis SE and the Down Syndrome Collaborative Group (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. N Engl J Med 324:872–876
Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH (1990) Rapid diagnosis of Miller-Dicker syndrome and isolated lissencephaly sequence by polymerase chain reaction. Hum Genet 85:555–559
Cattanach BM (1986) Parental origin effects in mice. J Embryol Exp Morphol 97 (Suppl): 137–150
Cattanach BM, Kirk M (1985) Differential activity of maternally and paternally derived chromosomes in mice. Nature 315:496–498
Couillin P, Hors J, Boue J, Boue A (1978) Identification of the origin of triploidy by HLA markers. Hum Genet 41:35–44
Goelz SZ, Hamilton SR, Vogelstein B (1985) Purification of DNA from formaldehyde fixed and paraffin embedded human tissue. Biochem Biophys Res Commun 130:118–126
Hayden MR, Kirk H, Clark C, Frohlich J, Rabkin S, MacLeod R, Hewitt J (1987) DNA polymorphisms in and around the Apo-AI-CIII genes and genetic hyperlipidemias. Am J Hum Genet 40:421–430
Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B (1978) The origin of human triploids. Ann Hum Genet 42:49–57
Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC (1982) Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet 46:223–231
Kajii T, Niikawa N (1977) Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers. Cytogenet Cell Genet 18:109–125
Kalousek DK, Barrett IJ, McGillivray BC (1989) Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 44:338–343
Kaufman MH, Lee KKH, Speirs S (1989) Influence of diandric and digynic triploid genotypes on early mouse embryogenesis. Development 105:137–145
Kola I, Trounson A (1989) Dispermic human fertilization: violation of expected cell behavior. In: Schatten H, Schatten G (eds) The cell biology of fertilization. Academic Press, San Diego, pp 277–293
Lauritsen JG, Bolund L, Friedrich U, Therkelsen AJ (1979) Origin of triploidy in spontaneous abortuses. Ann Hum Genet 43:1–6
Lawler SD, Fisher RA, Pickhall VJ, Povey S, Evans MW (1982) Genetic studies on hydatidiform moles. I. The origin of partial moles. Cancer Genet Cytogenet 5:309–320
Litt M, Luty JA (1990) Dinucleotide repeat polymorphism at the D6S89 locus. Nucleic Acids Res 18:4301
Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME (1991) Uniparental paternal disomy in Angelman's syndrome. Lancet 337:694–697
McFadden DE, Kalousek DK (1991) Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. Am J Med Genet 38:535–538
Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342:281–285
Niebuhr E (1974) Triploidy in man. Humangenetik 21:103–125
O'Neill GT, Kaufman MH (1987) Ovulation and fertilization of primary and secondary oocytes in LT/Sv strain mice. Gamete Res 18:27–36
Oudet C, Heilig R, Mandel JL (1990) An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene. Hum Genet 84:283–285
Pieters MHEC, Dumoulin JCM, Ignoul-Vanvuchelen RCM, Bras M, Evers JLH, Geraedts JPM (1992) Triploidy after in vitro fertilization: cytogenetic analysis of human zygotes and embryos. J Assist Reprod Genet 9:68–76
Procter SE, Gray ES, Watt JL (1984) Triploidy, partial mole and dispermy: an investigation of 12 cases. Clin Genet 26:46–51
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Szulman AE, Philippe E, Boue JG, Boue A (1981) Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum Pathol 12:1016–1021
Uchida IA, Freeman VCP (1985) Triploidy and chromosomes. Am Obstet Gynecol 151:65–69
Vejerslev LO, Dissing J, Hansen HE, Poulsen H (1987) Hydatidiform mole: genetic origin in polyploid conceptuses. Hum Genet76:11–19
Weber JL, May PE, Kappel C (1990) Dinucleotide repeat polymorphism at the D19S49 locus. Nucleic Acids Res 18:1927
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
McFadden, D.E., Kwong, L.C., Yam, I.Y.L. et al. Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet 92, 465–469 (1993). https://doi.org/10.1007/BF00216452
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00216452