Abstract
Triploidy is the most frequent chromosome aberration in first trimester spontaneous abortions. In contrast to aneuploidies due to nondisjunction, increased maternal age is not a risk factor and the mechanism of triploidy remains poorly understood. To date, recurrence of triploidy of maternal origin has been described only in a few families suggesting some underlying genetic factors. Here, we report on a woman who underwent three consecutive triploid pregnancies, in two of which maternal origin of triploidy was proved by molecular analysis.
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References
Schinzel A : Triploidy; in Schinzel A (eds). Catalogue of unbalanced chromosome aberrations in man, 2nd edn. Berlin-New York: Walter de Gruyter, 2001, pp 887–893.
Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC : Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet 1982; 46 (Part 3): 223–231.
Miny P, Koppers B, Dworniczak B, Bogdanova N et al: Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally. Am J Med Genet 1995; 22: 102–106.
McFadden DE, Kalousek DK : Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. J Med Genet 1991; 15: 535–538.
Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R : Genetic mapping of a maternal locus responsible for familial hydatiform moles. Hum Mol Genet 1999; 8: 667–671.
Sensi A, Gualandi F, Pittalis MC, Calabrese O et al: Mole maker phenotype: possible narrowing of the candidate region. Eur J Hum Genet 2000; 8: 641–644.
Pergament E, Confino E, Zhang JX, Roscetti L, Xien Chen P, Wellman D : Recurrent triploidy of maternal origin. Prenat Diagn 2000; 20: 561–563.
Huang B, Prensky L, Thangavelu M, Wang S : Three consecutive triploidy pregnancies in a 35-year-old woman: genetic predisposition. Am J Hum Genet 2002; 71 (Suppl): Abstract 2283.
Walsh PS, Erlich HA, Higuchi R : Preferential PCR amplification of alleles: mechanisms and solutions. PCR Methods Appl 1992; 1: 241–250.
Baumer A, Balmer D, Binkert F, Schinzel A : Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur J Hum Genet 2000; 8: 911–917.
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Brancati, F., Mingarelli, R. & Dallapiccola, B. Recurrent triploidy of maternal origin. Eur J Hum Genet 11, 972–974 (2003). https://doi.org/10.1038/sj.ejhg.5201076
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DOI: https://doi.org/10.1038/sj.ejhg.5201076
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Three consecutive triploidy pregnancies in a woman: genetic predisposition?
European Journal of Human Genetics (2004)
