Abstract
Chromosomal mosaicism, the presence of two or more distinct cell lines containing different karyotypes in one individual, originates during postzygotic development through nondisjunction, anaphase lag or, less commonly, through structural rearrangement. In large, consecutive live-born studies, the incidence of chromosomal mosaicism has been established as less than one in 1000 (Friedrich and Nielsen 1973; Jacobs et al. 1974; Hamerton et al. 1975). As in these studies the existence and frequency of chromosomal mosaicism were of no major concern, the small number of cells analysed in individual cases is the most likely explanation of the low incidence reported.
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References
Benn PA, Schonhaut AG, Hsu YFL (1983) A high incidence of maternal cell contamination of amniotic fluid cell cultures. Am J Med Genet 14: 361–365
Bui TH, Iselius L, Lindsten J (1984) European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn 4: 145–162
Friedrich U, Nielsen J (1973) Chromosome studies in 5049 consecutive newborn children. Clin Genet 4: 333–343
Graham CF, Deussen ZA (1978) Features of cell lineage in preimplantation mouse development. J Embryol Exp Morphol 48: 53–72
Greenberg F, Elsas TN, Reidy JA, Chen TLA, Stone BL (1982) Autosomal mosaicism in amniotic fluid cells from a twin pregnancy. Am J Med Genet 11: 109–112
Hahnemann N (1973) Chromosome studies in induced abortions. Clin Genet 4: 328–332
Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14069 newborn infants. Clin Genet 8: 233–243
Hsu LY, Perlis TE (1984) US survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 4: 97–130
Jacobs PA, Melville M, Ratcliffe S (1974) A cytogenetic survey of 11680 newborn infants. Ann Hum Genet 37: 359–379
Kalousek DK, Dill FJ (1983) Chromosomal mosaicism confined to the placenta in human conceptions. Science 221: 665–667
Kalousek DK, Dill FJ, Yong S (1985) Confined placental mosaicism detected by 2nd trimester prenatal diagnosis. Prenat Diagn (to be published)
Markert CL, Petters RM (1978) Manufactured hexaparental mi show that adults are derived from three embryonic cells. Science 202: 56–58
Milunsky A, Atkins L (1976) Prenatal diagnosis of chromosomal mosaicism. J Pediatr 88: 365–366
Nikawa N, Kajii T (1984) The origin of mosaic Down Syndrome: Four cases with cromosome markers. Am J Hum Genet 36: 123–130
Peakman DC, Moreton ME, Corn BJ, Robinson A (1979) Chromosomal mosaicism in amniotic fluic cell cultures. Am J Hum Genet 31: 149–155
Richards BW (1974) Investigation of 142 mosaic mongols and mosaic parents of mongols; cytogenetic analysis and maternal age at birth. J Ment Defic Res 18: 199–208
Rodriguez ML, Luthy D, Hall JG, Norwood TH, Hoehn H (1978) Amniotic fluid cell mosai-cism for presumptive trisomy 20. Clin Genet 13: 164–168
Rudd NL, Gardner AH, Horton RG (1977) Mosaicism in amniotic fluid cell cultures. Birth Defects 13 3D: 249–258
Stetten G, Meissner HI (1981) Unusual and rapid amniotic fluid cell growth. Am J Obstet Gynecol 140: 719–721
Sutherland GR, Bowser-Riley MS, Bain DA (1975) Chromosomal mosaicism in amniotic fluid cell cultures. Clin Genet 7: 400–404
Vekemans M, Perry BT, Hamilton E (1981) Chromosomal mosaicism on amniocentesis: An indication for fetoscopy? N Engl J Med 304: 52–53
Warburton D, Yu C, Kline J, Stein Z (1978) Mosaic autosomal trisomy in cultures from spontaneous abortions. Am J Hum Genet 30: 609–617
Worton RG, Stern R (1984) A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn 4: 131–144
Yamamoto M, Fujimori R, Ho T, Kamimura K, Watanabe G (1975) Chromosome studies in 500 induced abortions. Humangenetik 29: 9–14
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© 1985 Springer-Verlag Berlin Heidelberg
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Kalousek, D.K. (1985). Mosaicism Confined to Chorionic Tissue in Human Gestations. In: Fraccaro, M., Simoni, G., Brambati, B. (eds) First Trimester Fetal Diagnosis. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-70707-0_20
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DOI: https://doi.org/10.1007/978-3-642-70707-0_20
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