TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

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LIST OF FIGURES <strong>AND</strong> TABLES Figure 1. 18 Figure 2. 19 Figure 3. 22 Figure 4. 23 Figure 5. 28 Figure 6. 29 Figure 7. 30 Table 1. 20 Table 2. 24 Table 3. 26 Table 4. 31 iv Page
Trisomy 8 INTRODUCTION Trisomy 8 (T8) is a rare genetic condition in which all of an individual’s cells have 47 chromosomes including 3 chromosome 8s. T8 occurs in 0.1% of all recognizable pregnancies and 0.7% of spontaneous abortions (Karadima et al. 1998). T8 is associated with clinical manifestations known as Warkany syndrome (WS). It was first described in 1962 by Warkany et al. and thought to be due to an extra D group chromosome. Later cytogenetic evaluation proved WS to be caused by an extra chromosome 8; confusion of the first diagnosis being a D group chromosome was due to the extra chromosome as a partial 8; deletion of the short arm. Notable abnormalities of WS include mild to moderate mental retardation, skeletal anomalies, reduced joint mobility, renal abnormalities, deep palmar and plantar furrows, long narrow face, absence of corpus callosum, absence of patellae, and congenital heart defects (Riccardi 1977; Berry et al. 1978; Karadima et al. 1998). T8 has been reported to be incompatible with life and survival may be possible only in the mosaic form (James and Jacobs 1996; Karadima et al. 1998; Nicolaidis and Petersen 1998). Trisomy 8 mosaicism (T8m) is a rare genetic condition in which an individual has two different cell lines including a normal diploid and a trisomy 8 cell line. Over one hundred cases of T8 have been reported, the majority of which involve mosaicism (Kurtyka et al. 1988; Miller et al. 1996; Jordan et al. 1998; Karadima et al. 1998; Nicolaidis and Petersen 1998). T8m occurs in less than 1 in 25,000 liveborn and is found to be at a higher frequency (5:1) in males than females (Jordan et al. 1998). This 1
Page 1 and 2: TRISOMY 8 MOSAICISM: CELL CYCLE KIN
Page 3: TABLE OF CONTENTS iii Page Abstract
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 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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