TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

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Table 1. Metaphase Counts Tissue 46, XY 47, XY+8 Total cells Cord Blood 45 55 100 Transformed Blood 100 0 100 Peripheral Blood 47 53 100 Umbilical Cord 43 57 100 Amnion 57 43 100 Chorion 92 8 100 Villi 60 6 66* *insufficient sample size 20
When comparing embryonic tissues, cord blood, transformed blood, peripheral blood, and umbilical cord, the percentage of trisomy 8 cells were within 4% of each other, excluding the transformed blood, which resulted in 0% trisomy 8 cells. Since different cells are stimulated in the peripheral and cord blood (T-cells) than the transformed blood (B-cells), the data suggests the T-cells are more tolerant of the extra 8 chromosome or perhaps the path of the lymphoblast lineage is involved. Between the extra-embryonic tissues, the amnion had a higher number of trisomy 8 cells than the chorion and villi in the metaphase spreads. The goal for FISH interphase counts was 500 cells in each sample (Table 2). The interphase cells were scored as a normal male with two red (8) and one green (X) signal (figure 3) and as trisomy 8 with three red (8) and one green (X) signal (figure 4). 21
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: Figure 2 Trisomy 8 [46, XY, +8] Kar
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 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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