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Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks
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Guichet, A., Briault, S., Toutain, A., Paillet, C., Descamps, P., Pierre, F., Body, G., Moraine, C. (1995). Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks, Prenat. Diagn., 15, 769-772.
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Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20 and 21: Karyotype/phenotype correlations
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Hsu, L.Y.F., Yu, M.-T., Neu, R.L., van Dyke, D.L., Benn, P.A., Bradshaw, C.L., Shaffer, L.G., Higgins, R.R., Khodr, G.S., Morton, C.C., Wang, H., Brothman, A.R., Chadwick, D., Disteche, C.M., Jenkins, L.S., Kalousek, D.K., Pantzar, T.J., Wyatt, P. (1997). Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20 and 21: karyotype/phenotype correlations, Prenat. Diagn., 17, 201-242.
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Klein, J., Graham, J.M. Jr, Platt, L.D., Schreck, R. (1994). Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues, Prenat. Diagn., 14, 451-454.
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Molecular studies of chromosomal mosaicism: Relative frequency of chromosomal gain or loss and possible role of cell selection
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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 retardation
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Robinson, W.P., Barrett, I.J., Bernard, L., Telenius, A., Bernasconi, F., Wilson, R.D., Best, R.G., Howard-Peebles, P.N., Langlois, S., Kalousek, D.K. (1997). 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 retardation, Am. J. Hum. Genet., 60, 917-927.
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Pitfall: Amniocentesis fails to detect trisomy 8 in a male newborn
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Schneider, M., Klein-Vogler, U., Tomiuk, J., Schliephacke, M., Leipoldt, M., Enders, H. (1994). Pitfall: amniocentesis fails to detect trisomy 8 in a male newborn, Prenat. Diagn., 14, 651-652.
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Wang, B.T., Peng, W., Cheng, K.-T., Chui, S.-F., Ho, W., Khan, Y., Wittman, M., Williams III, J. (1994). Chorionic villi sampling: laboratory experience with 4000 consecutive cases, Am. J. Med. Genet., 53, 307-316.
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Wolstenholme, J. (1996). Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins and mechanisms for cell lineage compartmentalization, Prenat. Diagn., 16, 511-524.
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