Tissue-specific placental mosaicism for autosomal trisomies in human spontaneous abortuses: mechanisms of formation and phenotypical effects

Genetika

Volumn 37, Issue 11, 2001, Pages 1459-1474

  Lebedev, I N ^a   Nazarenko, S A ^a  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

FETUS; GENETICS; HUMAN; KARYOTYPING; MEIOSIS; METABOLISM; MITOSIS; MOSAICISM; PHENOTYPE; PLACENTA; REVIEW; SPONTANEOUS ABORTION; TRISOMY;

ABORTION, SPONTANEOUS; ENGLISH ABSTRACT; FETUS; HUMAN; KARYOTYPING; MEIOSIS; MITOSIS; MOSAICISM; PHENOTYPE; PLACENTA; TRISOMY;

EID: 0035513159     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (61)

1. Warburton D., Yu C.Y., KlineJ., Stein Z. Mosaic autosomal trisomy in cultures from spontaneous abortions // Amer. J. Human Genet. 1978. V. 30. JM> 6. P. 609-617.
2. Kalousek O.K., Dill F.J. Chromosomal mosaicism confined to the placenta in human conceptions // Science. 1983. V. 221. P. 665-667.
3. Delozier-Blanchet C.D. Cytogenetic anomalies and placental function // Rev. Fran. Gynecol. et d'Obstetr. 1991. V. 86. .N° 12. P. 723-729.
4. Kalousek D.K. Current topic: confined placental mosaicism and intrauterine fetal development // Placenta. 1994. V. 15. P. 219-230.
5. Simoni G., Sirchia S.M. Confined placental mosaicism // Prenatal Diagnosis. 1994. V. 14. P. 1185-1189.
6. Wolstenholme J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins and mechanisms for cell lineage compartmentalization // Prenatal Diagnosis. 1996. V. 16. P. 511-524.
7. Griffin O.K., Millie E.A., Redline R.W. et al. Cytogenetic analysis of spontaneous abortions: Comparison of techniques and assessment of the incidence of confined placental mosaicism // Amer. J. Med. Genet. 1997. V. 72. P. 297-301.
8. Kalousek O.K. Confined placental mosaicism and uniparental disomy // Funct. and Develop. Morphol. 1994. V. 4. .Ne 2. P. 93-98.
9. Jonson A., Wapner RJ. Mosaicism: implication for postnatal outcome // Curr. Opin. in Obstetr. and Gynecol. 1997. V. 9. No 2. P. 126-135.
10. Kalousek O.K., Barren U., Gärtner A.B. Spontaneous abortions and confined placental mosaicism // Human Genetics. 1992. V. 88. P. 642-646.
11. Lombardi S.J., Dev V.G. Cytogenetic discrepancies in spontaneous abortions with direct and culture analysis of chorionic villi // Amer. J. Obstetr. and Gynecol. 1992. V. 170. P. 264.
12. Hassold T., Hunt P.A., Sherman S. Trisomy in humans: incidence, origin and etiology // Curr. Opin. in Genet, and Develop. 1993.V. 3. No 3. P. 398-403.
13. Hassold T., Chen N., Funkhauser J, et al. A Cytogenetic study of 1000 spontaneous abortions // Ann. Human Genet. 1980. V. 44. No 2. P. 151-178.
14. Eiben B., Bartels I., Bahr-Porsch S. et al. Cytogenetic analysis of 750 spontaneous abortions with the directpreparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage // Amer. J. Human Genet. 1990. V. 47. P. 656-663.
15. Lestou VS., Kalausek D.K. Confined placental mosaicism and intrauterine fetal growth // Arch. Dis. Child. Fetal Neonatal Ed. 1998. V. 79. P. 223-226.
16. Takahara H., Ohama K., Fujiwara A. Cytogenetic study in early spontaneous abortions // Hiroshima J. Med. Sci. 1977. V. 26. No 4. P. 291-296.
17. Kajii T., Ferner A., Niikawa N. et al. Anatomic and chromosomal anomaliesin 639 spontaneous abortuses // Human Genet. 1980. V. 55. P. 87-98.
18. Meulenbroeck G.H.M., Geraedts J.P.M. Parental origin of chromosome abnormalities in spontaneous abortions // Human Genet. 1982. V. 62. P. 129-133.
19. Guerneri S., Bettio D., Simoni G. et al. Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions // Human Reproduc. 1987. V. 2. No 8. P. 735-739.
20. Rehder H., Coerdt W., Eggert R. et al. Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions? // Human Genet. 1989. V. 82. No 4. P. 377-385.
21. Ohno M., Maeda T., Matsunobi A. A cytogenetic study of spontaneous abortions with direct analysis of chorionic villi // Obstetr. and Gynecol. 1991. V. 77. P. 394-398.
22. Minelli E., Buchi C., Granata P. et al. Cytogenetic findings in echographically defined blighted ovum abortions // Ann. Genet. 1993. V. 36. No 2. P. 107-110.
23. Be C.R., Velasquez P.M., Youlton R.R. A cytogenetic study in 609 abrotions // Rev. Med. Chile. 1997. V. 125. P. 317-322.
24. Brajenovic-Milic B., Petrovic O., Krasevic M. et al. Chromosomal anomalies in abnormal human pregnancies // Fetal Diagnosis and Therapy. 1998. V. 13. No 3. P. 187-191.
25. Crane J.P., Cheung S.W. An embryonic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue // Prenatal Diagnosis. 1988. V. 8. No 2. P. 119-129.
26. Hahnemann J.M., Vejerslev L.O. European collaborative research on mosaicism in CVS (EUROCROMIC) fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy // Amer. J. Med. Genet. 1997. V. 70. P. 179-187.
27. Robinson W.P., Bernasconi F., Lau A., McFadden D.E. Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment // Amer. J. Med. Genet. 1999. V. 88. P. 34-42.
28. Zaragoza M.V., Millie E., Redline R.W., Hassold T.J. Studies of non-disjunction in trisomies 2, 7, 15 and 22: does the parental origin of trisomy influence placental morphology? // J. Med. Genet. 1998. V. 35. P. 925-931.
29. Kalousek D.K., Langlois S., Robison W.P. et al. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases // Amer. J. Med. Genet. 1996. V. 65. P. 348-352.
30. De Brasl D., Genuardi M., D'Agostino A. et al. Double autosomal/gonosomal mosaic aneuploidy: Study of nondisjunction in two cases with trisomy of chromosome 8 // Human Genet. 1995. V. 95. P. 519-525.
31. James R.S., Jacobs P.A. Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population // Human Genet. 1996. V. 97. No 3. P. 283-286.
32. Karadima G., Bugge M., Nicolaidis P. et al. Origin of non-disjunction in trisomy 8 and trisomy 8 mosaicism // Europ. J. Human Genet. 1998. V. 6. P. 432-438.
33. Wilkinson T.A., James R.S., Crolla J.A. et al. A case of maternal uniparenatal disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9 // Prenatal Diagnosis. 1996. V. 16. No 4. P. 371-374.
34. Nicolaidis P., Peter sen M.B. Origin and mechanisms of non-disjuction in human autosomal trisomies // Human Reproduc. 1998. V. 13. No 2. P. 313-319.
35. Bischoff F.Z., Zenger-Hain J., Moses D. et al. Mosaicism for trisomy 12: four cases with varying out-comes// Prenatal Diagnosis. 1995. V. 15. No 11. P. 1017-1026.
36. Hassold T., Takaesu N. Analysis of non-disjunction in human trisomie spontaneous abortions // Progress in Clinical and Biol. Res. 1989. V. 311. P. 115-134.
37. Zaragoza M.V., Jacobs P.A., James R.S. et al. Nondisjunction of human acrocentric chromosomes: studies of 432 fetuses and liveboms // Human Genet. 1994. V. 94. P. 411-417.
38. Hassold T., Jacobs P.A., Lepert M., Sheldon M. Cytogenetic and molecular studies of trisomy 13 // J. Med. Genet. 1987. V. 24. P. 725-732.
39. Cristian S.L., Smith A.C.M., Black C. et al. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism//Prenatal Diagnosis. 1996. V. 16. P. 323-332.
40. Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UD: European Collaborative Research on Mosaicism in CVS // Prenatal Diagnosis. 1999. V. 19. No 1. P. 29-35.
41. Hassold T., Pettay D., Freeman S.D. et al. Molecular studies of non-disjunction in trisomy 16 //J. Med. Genet. 1991. V. 28. P. 159-162.
42. Hassold T., Merrill M., Adkins K. et al. Recombination and maternal-age dependent nondisjunction: molecular studies of trisomy 16 // Amer. J. Human Genet. 1995. V. 57. P. 867-874.
43. Robinson W.P., Barren I.J., Bernard L. et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast and increased risk of fetal intrauterine growth restriction // Amer. J. Human Genet. 1997. V. 60. P. 917-927.
44. Genuardi M., Tozzi C., Pomponi M. et al. Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies // Europ. J. Human Genet. 1997. V. 7. P. 421-426.
45. Fisher J.M., Harvey J.F., Morton N.E., Jacobs P.A. Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction // Amer. J. Human Genet. 1995. V. 56. No 3. P. 669-675.
46. Bugge M., Collins A., Petersen M.B. et al. Non-disjunction of chromosome 18 // Human Mol. Genet. 1998. V. 7. P. 661-668.
47. Lamb N.E., Freeman S.B., Savage-Austin A. et al. Susceptible chiasmate configurations of chromosome 21 predispose to nondisjunction in both maternal meiosis I and meiosis II // Nature Genet. 1996. V. 14. P. 400-405.
48. Pangalos C., Avramopoulos D., Blouin J. et al. Understanding mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis // Amer. J. Human Genet. 1994. V. 60. P. 917-927.
49. Sherman S.L., Takaesu N., Freeman S.B. et al. Trisomy 21 : association between reduced recombination and nondisjunction // Amer. J. Human Genet. 1991. V. 49. No 3. P. 608-620.
50. Bacino CA., Schreck R., Fischel-Ghosdian N. et al. Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review literature // Amer. J. Med. Genet. 1995. V. 56. P. 359-365.
51. Wapner R., Jackson L., Davies G. et al. Cytogenetic discrepancies found at chorionic villus sampling // Amer. J. Human Genet. 1985. V. 37 (Suppl.). P. A122.
52. Ledbetter D.H., Zachary J.M., Simpson J.L. et al. Cytogenetic results from UK collaborative study on CVS // Prenatal Diagnosis. 1992. V. 12. P. 317-345.
53. Wolstenholme J., Rooney D.E., Davison E.V. Confined placental mosaisism, IUGR and adverse pregnancy outcome: a controlled retrospective U. K. collaborative study // Prenatal Diagnosis. 1994. V. 14. P. 345-361.
54. Warburton D., Kinney A. Chromosomal differences in susceptibility to meiotic aneuploidy // Environment, and Mol. Mutagen. 1996. V. 28. No 3. P. 237-247.
55. Persutte W.H., Lenke R.P. Failure of amniotic-fluid cell growth: is it related to fetal aneuploidy? // Lancet. 1995. V. 345. P. 96-97.
56. Reid R., Sepulveda W., Kyle P.M., Davies G. Amniotic fluid culture failure: clinical significance and association with aneuploidy // Obstetr. and Gynecol. 1996. V. 87. P. 588-592.
57. Miller K., Metze V., Wang R. et al. Proliferation kinetics of chorionic villi in chromosomally normal and abnormal spontaneous abortions analyzed by premature chromosome condensation and northern blot // Ann. Genet. 1996. V. 39. No 3. P. 159-167.
58. James R.M., West J.D. A chimaeric animal model for confined placental mosaicism // Human Genet. 1994. V. 93. P. 603-604.
59. Everett CA., West J.D. Evidence for selection against tetraploid cells in tetraploid → diploid mouse chimaeras before the late blastocyst stage // Genet. Res. 1998. V. 72. No 3. P. 225-228.
60. Henderson K.G., Shaw T.E., Barren IJ. et al. Distribution mosaicism in human placentae // Human Genet. 1996. V. 97. P. 650-654.
61. Marken C.L., Fetters RM. Manufactured hexaparental mice show that adults are derived from three embryonic cells // Science. 1978. V. 202. P. 56-58.