TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

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interphase cycle status to determine if cells were ascertained in the GO phase (Felsher et al. 2000). These tests as well as others could pinpoint the mechanism involved, resulting in other cases of T8m patients with decreased trisomic cells undergoing mitosis, making a distinction between cells in GO and apoptosis. 38
BIBLIOGRAPHY Berry AC, Mutton DE, and Lewis DGM. (1978) Mosaicism and the trisomy 8 syndrome. Clinical Genetics 14(2):105-14. Bonhoeffer S, Mohri H, Ho D, and Perelson AS. (2000) Quantification of cell turnover kinetics using 5-bromo-2’-deoxyridine. Journal of Immunology 164(10):5049- 54. Farra C, Giudicelli B, Pellissier MC, Philip N, and Piquet C. (2000) Fetoplacental chromosomal discrepancy. Prenatal Diagnosis 20:190-3. Felsher DW, Zetterberg A, Zhu J, Tisty T, and Bishop JM. (2000) Overexpression of MYC causes p53-dependent G2 arrest of normal fibroblasts. Proc. Natl. Acad. Sci. USA 97(19):10544-8. Filkins K and Russo JF. (1990) Human Prenatal Diagnosis: Second Edition, Revised and Expanded. Griffin DK, Millie EA, Redline RW, Hassold TJ, and Zaragoza MV. (1997) Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. American Journal of Medical Genetics 72:297-301. Guichet A, Briault S, Toutain A, Paillet C, Descamps P, Pierre F, Body G, and Moraine CL. (1995) Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks. Prenatal Diagnosis 15:769-72. James RS and Jacobs PA. (1996) Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Human Genetics 97:283-6. Jordan MA, Marques I, Rosendorff J, and De Ravel TJL. (1998) Trisomy 8 mosaicism: A further five cases illustrating marked clinical and cytogenetic variability. Genetic Counseling 9(2):139-46. Kalousek DK. (2000) Pathogenesis of chromosomal mosaicism and its effect on early human development. American Journal of Medical Genetics 91:39-45. 39
Page 1 and 2: TRISOMY 8 MOSAICISM: CELL CYCLE KIN
Page 3 and 4: TABLE OF CONTENTS iii Page Abstract
Page 5 and 6: Trisomy 8 INTRODUCTION Trisomy 8 (T
Page 7 and 8: proliferates and thus mosaicism res
Page 9 and 10: Prenatal Testing Prenatal testing i
Page 11 and 12: DNA undergoing synthesis. Once a sa
Page 13 and 14: centrifugation, aspiration, and fix
Page 15 and 16: insed with water and allowed to air
Page 17 and 18: fixative, and the centrifugation an
Page 19 and 20: FISH slide preparation Day 1 Slides
Page 21 and 22: Case Report RESULTS Amniocentesis,
Page 23 and 24: Figure 2 Trisomy 8 [46, XY, +8] Kar
Page 25 and 26: When comparing embryonic tissues, c
Page 27 and 28: Figure 4 FISH Trisomy 8 [46, XY, +8
Page 29 and 30: There was a notable difference betw
Page 31 and 32: For each tissue the metaphase and i
Page 33 and 34: Figure 6 Second Division - Cell Cyc
Page 35 and 36: Table 4. Division Rates for Normal
Page 37 and 38: Origin of Trisomy 8 cells DISCUSSIO
Page 39 and 40: original finding of La Marche in th
Page 41: Pallister Killian patients with the
Page 45: Thornberg Reeser SL and Wenger SL.

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