TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

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Table 2. FISH Interphase Counts Total Maternal Tissue 45, XY, -8 46, XY 47, XY,+8 Cells Contamination Cord Blood 8 186 306 500 - Transformed Blood 7 469 24 500 - Peripheral Blood 3 127 370 500 - Umbilical Cord 6 52 442 500 1.96% Amnion 9 243 248 500 - Chorion 1 113 36 150† 83.68% Villi 0 0 0 0‡ - † low sample size due to high maternal contamination ‡ insufficient sample 24
There was a notable difference between the normal and trisomy 8 cells in the cord and peripheral blood (T-cells) versus the transformed blood (B-cells) in the interphase counts also (Table 2). Once again the number of trisomy 8 cells is higher in the cord and peripheral blood and low in the transformed blood. The amnion was also elevated in trisomy 8 interphase cells than in the chorion, the villi could not be tested for comparison due to tissue growth failure. When recording the interphase FISH counts maternal contamination was a factor. The chorion was only scored for 150 cells due to high maternal contamination of 83.68%. The umbilical cord resulted in 1.96% maternal contaminant, while the remaining tissues were not contaminated. 25
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: Figure 4 FISH Trisomy 8 [46, XY, +8
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 and 42: Pallister Killian patients with the
Page 43 and 44: BIBLIOGRAPHY Berry AC, Mutton DE, a
Page 45: Thornberg Reeser SL and Wenger SL.

TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

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