TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

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done using a UV-fluorescent microscope with triple band filters. Two red signals and one green signal designate normal male cells, whereas three red signals and one green signal indicate trisomy 8 male cells. 16
Case Report RESULTS Amniocentesis, performed due to abnormal maternal serum triple screen, diagnosed the fetus with T8m. Twenty-five metaphase cells were investigated and resulted in 47,XY+8 [8] and 46,XY [17]. The male infant was delivered naturally at 40 weeks gestation and weighed 3.3kg, which falls in the 50 th percentile. Physical manifestations included bitemporal narrowing, large fleshy ears, hypoplastic nails, deep palmar and plantar furrows, first-degree hypospadias, severe cardiac enlargement secondary to pulmonary hypertension, and feeding difficulties. The infant expired at 8 weeks of age due to pulmonary hypertension. At the time of birth various fetal tissues were collected including peripheral blood, cord blood, umbilical cord (blood vessel), and extra-embryonic tissues including chorion, amnion, and villi. Each sample was investigated separately for metaphase and interphase analysis, and cell cycle kinetics. Tissue Mosaicism Determination Once the tissues were cultured and harvested, the slides were prepared and G-banded (see figures 1 and 2) for analysis of mosaicism percentage. Trisomy 8 cells were found in every sample, except for the transformed lymphoblasts (see Table 1). 17
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: FISH slide preparation Day 1 Slides
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 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.

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