Hostname: page-component-77c89778f8-swr86 Total loading time: 0 Render date: 2024-07-17T12:55:14.118Z Has data issue: false hasContentIssue false
  • English
  • Français

Aneuploid Correction and Confined Placental Mosaicism

Published online by Cambridge University Press:  01 August 2014

G. Simoni ,
S. M. Sirchia  and
M. Fraccaro
G. Simoni*
Affiliation:
Genetica Umana, Istituto di Scienze Mediche S. Paolo, Università di Milano, Italia
S. M. Sirchia
Affiliation:
Fondazione Centro Studi di Patologia Molecolare applicata alla Clinica, Milano, Italia
M. Fraccaro
Affiliation:
Istituto Biologia Generale e Genetica Medica, Dipartimento Patologia Umana ed Ereditaria, Università di Pavia, Italia
*
Genetica Umana, Istituto di Scienze Biomediche S. Paolo, Università di Milano, Via A. di Rudinì 8, 20124 Milano, Italy

Extract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Uniparental disomy (UPD) can be caused by various genetic mechanisms such as gamete complementation, chromosome duplication in a monosomic zygote or postzygotic aneuploid correction. This latter mechanism has been recently well documented in human reproduction and seems to be strictly related to placental mosaicism. We have therefore studied some aspects of confined placental mosaicism (CPM) which are useful to clarify one of the most common sources of UPD in humans.

Abnormal distribution of chromosomes in postzygotic mitotic cell divisions may result in a mosaic condition with two or more cell lines showing different chromosome constitutions. The effects on fetal phenotype and pregnancy development depend on the chromosomes involved, the distribution of the abnormal cells among tissues and on the precise stage at which chromosome mutation occurs.

As shown in Fig. 1, when the mutational event occurs in the blastocyst, prior to the differentiation of embryonic and chorionic compartments, the mosaicism is found in both the placental and fetal tissues. In contrast, when the chromosome mutation occurs at a later stage, after embryonic and chorionic compartment separation, the abnormal cells may be confined to the placenta or to the embryo, and are not necessarily found in both.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 153 - 161
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

1. Kalousek, DK: Mosaicism confined to chorionic tissue in human gestations; in Fraccaro, M, Simoni, G, Brambati, B (eds): First Trimester Fetal Diagnosis. Berlin, Springer, 1985; pp 130–136.Google Scholar
2. Ford, CE: Mosaicism and chimaeras, Br Med Bull 1969; 25: 104–109.Google Scholar
3. Warburton, D, Yu, CY et al: Mosaic autosomal trisomy in cultures from spontaneous abortions. Am J Hum Genet 1978; 30: 609–617.Google Scholar
4. Priest, JH, Priest, RE, Sgoutas, DS: Production of hormones by cells cultured from human amniotic fluid. Am J Hum Genet 1977; 29: 88A.Google Scholar
5. Simoni, G, Gimelli, GL, Discordance between prenatal cytogenetic diagnosis after chorionic villus sampling and chromosomal constitution of the fetus; in Fraccaro, M, Simoni, G, Brambati, B (eds): First Trimester Fetal Diagnosis. Berlin, Springer, 1985, pp. 137–143.Google Scholar
6. Gosden, C: Genetic diagnosis, chorionic villous biopsy and placental mosaicism; in Redman, , Sargent, , Starkey, . (eds): The Human placenta. Oxford, Blackwell Scientific, 1993.Google Scholar
7. Markert, CL, Petters, RM: Manufactured hexaparental mice show that adults are derived from three embryonic cells. Science 1978; 202: 56–58.CrossRefGoogle Scholar
8. Vejerslev, LO, Mikkelsen, M: The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987. Prenat Diagn 1989; 9: 575–588.CrossRefGoogle Scholar
9. Callen, DF, Korban, G et al: (Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenat Diagn 1988; 8: 453–460.CrossRefGoogle ScholarPubMed
10. Leschot, NJ, Wolf, H et al: Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies. Br J Obstet Gynaecol 1989; 96: 663–670.Google Scholar
11. Miny, P, Basaran, S et al: Validity of cytogenetic analyses from trophoblast tissue throughout gestation. Am J Med Genet 1989; 33: 136–141.Google Scholar
12. Simoni, G, Terzoli, GL et al: Direct chromosome, preparation and culture using chorionic villi: An evaluation of the two techniques. Am J Med Genet 1990; 35: 181–183.Google Scholar
13. Sachs, ES, Los, FJ, Jahoda, MGJ: New experience with mosaicism and discrepancies in 2600 direct chorionic villi studies. Prenat Diagn 1992; 12 suppl: 28.Google Scholar
14. Kalousek, DK, Dill, FJ: Chromosomal mosaicism confined to the placenta in human conceptions. Science 1983; 221: 665–667.Google Scholar
15. Stioui, S, De Silvestris, M et al: Trisomie 22 placenta in a case of severe intrauterine growth retardation. Prenat Diagn 1989; 9: 673–676.Google Scholar
16. Reddy, NS, Blakemore, KJ et al: The significance of trisomy 7 mosaicism in chorionic villus culture. Prenat Diagn 1990; 10: 417–423.Google Scholar
17. Wirtz, A, Gloning, KPH et al: Trisomy 18 in chorionic villus sampling: Problems and consequences. Prenat Diagn 1991; 11: 563–567.Google Scholar
18. Johnson, A, Wapner, RJ et al: Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol 75: 573–577.Google Scholar
19. Wapner, RJ, Simpson, JL et al: Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome. Prenat Diagn 1992; 12: 347–355.Google Scholar
20. Kalousek, DK: Confined placental mosaicism and intrauterine human development, Acta Med Auxol 1991; 23: 201–208.Google Scholar
21. Spence, JE, Perciaccante, RG et al: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988; 42: 217–226.Google Scholar
22. Kalousek, DK, Langlois, S et al: Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993; 2: 8–16.Google Scholar
23. Cassidy, SB, Lai, LW et al: Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 1992, 51: 701–708.Google ScholarPubMed
24. Haas, OA, Seyger, M: Hypothesis: Meiotic origin of trisomie neoplasms. Cancer Genet Cytogenet 1993; 70: 112–116.Google Scholar