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Cytogenetics of Spontaneous Abortion 343 38. Hassold, T., Benham, F., and Leppert, M. (1988) Cytogenetic and molecular analysis of sex-chromosome monosomy. Am. J. Hum. Genet. 42, 534–541. 39. Hassold, T., Pettay, D., Robinson, A., and Uchida, I. (1992) Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum. Genet. 89, 647–652. 40. Held, K.R., Kerber, S., Kaminsky, E., et al. (1992) Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum. Genet. 88, 288–294. 41. Baldinger, S., Millard, C., Schmeling, D., and Bendel, R.P. (1987) Prenatal diagnosis of trisomy 20 mosaicism indicating an extra embryponic origin. Prenat. Diagn. 7, 273–276. 42. Morssink, L.P., Sikkema-Raddatz, B., Beekhuis, J.R., deWolf, B.T.H.M., and Mantingh, A. (1996) Placental mosaicism is associated with unexplained second-trimester eleveation of MshCG levels, but not with elevation of MSAFP levels. Prenat. Diagn. 16, 845–851. 43. Kalousek, D.K. and Barrett, I. (1994) Confined placental mosaicism and stillbirth. Pediatr. Pathol. 14, 151–159. 44. Kalousek, D.K., Barrett, I.J., and Gärtner, A.B. (1992) Spontaneous abortion and confined placental mosaicism. Hum. Genet. 88, 642–646. 45. Robinson, W.P., Binkert, F., Bernasconi, F., Lorda-Sanchez, I., Werder, E.A., and Schinzel, A.A. (1995) Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am. J. Hum. Genet. 56, 444–451. 46. Kalousek, D.K., Barrett, I.J., and McGillivray, B.C. (1989) Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am. J. Hum. Genet. 44, 338–343. 47. Harrison, K.J., Barrett, I.J., Lomax, B.L., Kuchinka, B.D., and Kalousek, D.K. 1993) Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis. Hum. Genet. 92, 353–358. 48. Betts, D.R., Fear, C.N., Barry, T., and Seller, M.J. (1989) A 45,X/69,XXY fetus. Clin. Genet. 35, 285–288. 49. Blackburn, W.R., Miller, W.P., Superneau, D.W., Cooley, N.R., Zellweger, H., and Wertelecki, W. (1982) Comparative studies of infants with mosaic and complete triploidy: An analysis of 55 cases. Birth Defects: Original Article Series 18, 251–274. 50. Dewald, G., Alvarez, M.N., Cloutier, M.D., Kelalis, P.P., and Gordon, H. (1975) A diploid-triploid human mosaic with cytogenetic evidence of double fertilization. Clin. Genet. 8, 149–160. 51. Thomas, J.H. (1995) Genomic imprionting proposed as a surveillance mechanism for chromosome loss. Proc. Natl. Acad. Sci. USA 92, 480–482. 52. Neuber, M., Rehder, H., Zuther, C., Lettau, R., and Schwinger, E. (1993) Polyploidies in abortion material decrease with maternal age. Hum. Genet. 91, 563–566. 53. O’Neill, G.T. and Kaufmann, M.H. (1987) Ovulation and fertilizationof primary and secondary oöcytes in LT/Sv strain mice. Gamete Res. 18, 27–36. 54. Jacobs, P.A., Hassold, T.J., Matsuyama, A.M., and Newlands, I.M. (1978) Chromosome constitution of gestational trophoblastic disease. Lancet 2, 49. 55. Lindor, N.M., Ney, J.A., Gaffey, T.A., Jenkins, R.B., Thibodeau, S.N., and Dewald, G.W. (1992) A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. Mayo Clin. Proc. 67, 791–799. 56. Levavi, H., Neri, A., Bar,J., Regev, D., Nordenberg, J., and Ovadia, J. (1993) “Hook effect” in complete hydatidiform molar pregnancy: a falsely low level of b-hCG. Obstet. Gynecol. 82, 720–721. 57. Berkowitz, R.S., Goldstein, D.P., and Bernstein, M.R. (1991) Evolving concepts of molar pregnancy. J. Reprod. Med. 36, 40–44. 58. Benirschke, K. and Kaufmann, P. (1995) Pathology of the Human Placenta, 3rd ed. Springer-Verlag, New York. 59. Szulman, A.E. (1984) Syndromes of hydatidiform moles: partial vs. complete. J. Reprod. Med. 11, 788–791. 60. Mutter, G.L., Stewart, C.L., Chaponot, M.L., and Pomponio, R.J. (1993) Oppositely imprinted genes H19 and insulinlike growth factor 2 are coexpressed in human androgenic trophoblast. Am. J. Hum. Genet. 53, 1096–1102. 61. Ariel, I., Lustin, O., Oyer, C.E., et al. (1994) Relaxation of imprinting in trophoblastic disease. Gynecol. Oncol. 53, 212–219. 62. McFadden, D.E., Kwong, L.C., Yam, I.Y.L., and Langlois, S. (1993) Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum. Genet. 92, 465–469. 63. Berkowitz, R.S., Bernstrin, M.R., Laborde, O., and Goldstein, D.P. (1994) Subsequent pregnancy experience in patients with gestational trophoblastic disease. New England Trophoblastic Disease Center, 1965–1992. J. Reprod. Med. 39, 228–232. 64. Matalon, M. and Modan, B. (1972). Epidemiologic aspects of hydatidiform mole in Israel. Am. J. Obstet. Gynecol. 112, 107–112. 65. Rice, L.W., Lage, J.M., Berkowitz, R.S., Goldstein, D.P., and Bernstein, M.R. (1989) Repetitive complete and partial hydatidiform mole. Obstet. Gynecol. 74, 217–219. 66. Sebire, N.J., Fisher, R.A., Foskett, M., Rees, H., Seckl, M.J., and Newlands E.S. (2003) Risk of recurrent hydatidiform mole and subsequent pregnancy outcome following complete or partial hydatidiform molar pregnancy. Br. J. Obstet. Gyn. 110(1), 22–26.
344 Solveig Pflueger 67. LaVecchia, C., Franceschi, S., Fasoli, M., and Mangioni, C. (1982) Gestational trophoblastic neoplasms in homozygous twins. Obstet. Gynecol. 60, 250–252. 68. Ambrani, L.M., Vaidya, R.A., Rao, C.S., Daftary, S.D., and Motashaw, N.D. (1980) Familial occurrence of trophoblastic disease—report of recurrent molar pegnancies in sisters in three families. Clin. Genet. 18, 27–29. 69. Parazzini, F., LaVecchia, C., Franceschi, S., and Mangili, G. (1984) Familial trophoblastic disease: case report. Am. J. Obstet. Gynecol. 149, 382–383. 70. Kircheisen, R. and Schroeder-Kurth, T. (1991) Familiäres blasenmolen-syndrom und genetische aspekte dieser gestörten trophoblastentwicklung. Geburtshilfe Frauenheilkd. 51, 560–571. 71. Jacobs, P.A. (1981). Mutation rates of structural chromosome rearrangements in man. Am. J. Hum. Genet. 33, 44–54. 72. Dewald, G. and Michels, V.V. (1986) Recurrent miscarriages: Cytogenetic causes and genetic counseling of affected families. Clinic. Obstet. Gynecol. 29, 865–885. 73. Jacobs, P.A. (1977). Epidemiology of chromosome abnormalities in man. Am. J. Epidemiol. 105, 180–191. 74. Olson, S.B. and Magenis, R.E. (1988) Preferential paternal origin of de novo structural chromosome arrangements. In The Cytogenetics of Mammalian Autosomal Rearrangements (Daniel, A., ed.), Alan R. Liss, New York, pp. 583–599. 75. Simpson, J.L., Elias, S., Meyers, C.M., Ober, C., and Martin, A.O. (1989) Translocations are infrequent among couples having repeated spontaneous abortions but no other abnormal pregnancies. Fertil. Steril. 51, 811–814. 76. Campana, M., Serra, A., and Neri, G. (1986) Role of chromosome aberrations in recurrent abortion: A study of 269 balanced translocations. Am. J. Med. Genet. 24, 341–356. 77. Braekeleer, M. De and Dao, T.-N. (1990) Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum. Reprod. 5, 519–528. 78. Gadow, E.C., Lippold, S., Otano, L., Serafin, E., Scarpati, R., and Metayoshi, T. (1991) Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. Am. J. Med. Genet. 41, 279–281. 79. Petrosky, D.L. and Borgaonkar, D.S. (1984) Segregation analysis in reciprocal translocation carriers. Am. J. Hum. Genet. 19, 137–159. 80. Cowchock, F.S., Gibas, Z., and Jackson, L.G. (1993) Chromosomal errors as a cause of spontaneous abortion: the relative importance of maternal age and obstetrical history. Fertil. Steril. 59, 1011–1014. 81. Morton, N.E., Chiu, D., Holland, C., Jacobs, P.A., and Pettay, D. (1987) Chromosome anomalies as predictors of recurrence risk for spontaneous abortion. Am. J. Med. Genet. 28, 353–360. 82. Hassold, T. (1980) A cytogenetic study of repeated spontaneous abortions. Hum. Genet. 32, 723–730. 83. Warburton, D., Kline, J., Stein, Z., Hutzler, M., Chin, A., and Hassold, T. (1987) Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 272 women with two karyotyped spontaneous abortions. Am. J. Hum. Genet. 41, 465–483. 84. Hasegawa, I., Imai, T., Tanaka, K., Fujimori, R., and Sanada, H. (1996) Studies on the cytogenetic and endocrinologic background of spontaneous abortion. Fertil. Steril. 65, 52–54. 85. Scott, J.R., Rote, N.S., and Branch, D.W. (1987) Immunologic aspects of recurrent abortion and fetal death. Obstet. Gynecol. 70, 645–656. 86. Gimovsky, M.L. and Montoro, M. (1991) Systemic lupus erythematosus and other connective tissue diseases in pregnancy. Clin. Obst. Gynecol. 34, 35–50. 87. Lubbe, W.F. and Liggins, G.C. (1988) Role of lupus anticoagulant and autoimmunity in recurrent pregnancy loss. Semin. Reprod. Endocrinol. 6, 181–190. 88. Branch, P.W. and Ward, K. (1989) Autoimmunity and pregnancy loss. Semin. Reprod. Endocrinol. 7, 168–177. 89. Brown, H.L. (1991) Antiphospholipid antibodies and recurrent pregnancy loss. Clin. Obstet. Gynecol. 34, 17–26. 90. Mowbry, J.F., Gibbings, C., Liddell, H. Reginald, P.W., Underwood, J.L., and Beard, R.W. (1985) Control trial of treatment of recurrent spontaneous abortion by immunization with paternal cells. Lancet 1, 941–943. 91. Yamada, H., Kishida, T., Kobayashi, N., Kato, E.H., Hoshi, N., and Fujimoto, S. (1999) Massive immunoglobulin treatment in women with four or more recurrent spontaneous primary abortions of unexplained aetiology. Hum. Reprod. 13(9), 2620–2623. 92. McDonough, P.G. (1988) The role of molecular mutation in recurrent euploidic abortion. Semin. Reprod. Endocrinol. 6, 155–161. 93. Gill, T.J. (1992). Influence of MHC and MHC-linked genes on reproduction. Am. J. Hum. Genet. 50, 1–5. 94. Gelman-Kohan, Z., Rosensaft, J., Ben-Hur, H., Haber, A., and Chemke, J. (1996) Cytogenetic analysis of fetal chondrocytes: a comparative study. Prenat. Diagn. 16(2), 165–168. 95. Ohno, M., Maeda, T., and Matsunobu, A. (1991) A cytogenetic study of spontaneous abortions with direct analysis of chorionic villi. Obstet. Gynecol. 77, 394–398. 96. Griffin, D.K., Millie, E.A., Redline, R.W., Hassold, T.J., and Zaragoza, M.V. Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. Am. J. Med. Genet. 72(3), 297–301. 97. Lathi, R.B. and Milki, A.A. (2002) Tissue sampling technique affects accuracy of karyotype from missed abortions. J. Assist. Reprod. Genet. 19(1), 536–538.
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The Principles of Clinical Cytogene
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The Principles of Clinical Cytogene
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v Preface In the summer of 1989, on
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vii Preface to First Edition The st
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ix Contents Preface ...............
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Contributors SARAH HUTCHINGS CLARK,
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History of Clinical Cytogenetics 1
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4 Steven Gersen The hypotonic solut
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6 Steven Gersen marrow aspiration,
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8 Steven Gersen 9. Hsu, T.C. (1952)
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10 Martha Keagle Fig. 1. DNA struct
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12 Martha Keagle Fig. 3. Transcript
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14 Martha Keagle Fig. 5. Translatio
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16 Martha Keagle Fig. 7. The levels
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18 Martha Keagle single-copy DNA is
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20 Martha Keagle Fig. 10. Mitosis.
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22 Martha Keagle Fig. 11. Schematic
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24 Martha Keagle Fig. 13. Spermatog
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Human Chromosome Nomenclature 27 IN
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Human Chromosome Nomenclature 29 Fi
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Human Chromosome Nomenclature 33 Ta
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Human Chromosome Nomenclature 47 In
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Human Chromosome Nomenclature 49 Ma
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Human Chromosome Nomenclature 51 Un
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Human Chromosome Nomenclature 53 Ta
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Human Chromosome Nomenclature 55 46
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Human Chromosome Nomenclature 57 nu
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Basic Laboratory Procedures 59 II E
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Basic Laboratory Procedures 63 INTR
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Basic Laboratory Procedures 65 amni
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Basic Laboratory Procedures 67 Prep
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Basic Laboratory Procedures 69 Fig.
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Basic Laboratory Procedures 77 Lack
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Basic Laboratory Procedures 79 Once
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82 Christopher McAleer Fig. 1. Sche
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84 Christopher McAleer measurements
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86 Christopher McAleer allow light
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88 Christopher McAleer High-dry obj
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90 Christopher McAleer Fig. 3. Sche
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Quality Control and Quality Assuran
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Automation in the Cytogenetics Labo
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Autosomal Aneuploidy 131 III Clinic
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Autosomal Aneuploidy 133 INTRODUCTI
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135 Table 1 Parental and Meiotic/Mi
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Autosomal Aneuploidy 137 Fig. 2. Sc
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Autosomal Aneuploidy 139 forming ab
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Autosomal Aneuploidy 141 Fig. 5. Th
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Autosomal Aneuploidy 143 Fig. 6. Pr
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Autosomal Aneuploidy 145 Fig. 8. An
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Autosomal Aneuploidy 147 trisomies,
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Autosomal Aneuploidy 149 21 and ind
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Autosomal Aneuploidy 151 molecular
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Autosomal Aneuploidy 153 Fig. 10. T
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Autosomal Aneuploidy 155 This marke
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Autosomal Aneuploidy 157 47. Hawley
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Autosomal Aneuploidy 159 110. Lindo
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Autosomal Aneuploidy 161 171. Moghe
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Autosomal Aneuploidy 163 231. Reese
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Structural Chromosome Rearrangement
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177 Prader-Willi Paternal deletion
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179 Table 2 Some Recurring Duplicat
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Sex Chromosomes and Sex Chromosome
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Cytogenetics of Infertility 247 INT
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Cytogenetics of Infertility 249 Amo
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Cytogenetics of Infertility 251 Tab
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Cytogenetics of Infertility 253 gen
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255 Primary ciliary dyskinesia Auto
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Cytogenetics of Infertility 257 cha
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Cytogenetics of Infertility 259 Tab
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Cytogenetics of Infertility 261 Fig
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Cytogenetics of Infertility 263 rat
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Cytogenetics of Infertility 265 39.
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268 Linda Marie Randolph By 1986, m
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270 Linda Marie Randolph Table 1 Ch
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272 Linda Marie Randolph Table 4 Th
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274 Linda Marie Randolph Table 6 Fr
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276 Linda Marie Randolph rate of 14
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278 Table 8 Outcome in Early (11-14
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280 Linda Marie Randolph Table 9 Vo
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282 Linda Marie Randolph In 1995, O
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284 Linda Marie Randolph Fig. 1. Il
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286 Linda Marie Randolph reported c
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288 Linda Marie Randolph The underl
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290 Linda Marie Randolph Fig. 3. Ul
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Page 325 and 326: 310 Linda Marie Randolph DNA marker
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Page 333 and 334: 318 Linda Marie Randolph 173. Cicer
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Page 338 and 339: Cytogenetics of Spontaneous Abortio
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Page 363 and 364: 348 Xiao-Xiang Zhang Fig. 1. An exa
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Page 375 and 376: 360 Xiao-Xiang Zhang REFERENCES 1.
Page 378 and 379: Cytogenetics of Hematologic Neoplas
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Cytogenetics of Hematologic Neoplas
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Cytogenetics of Solid Tumors 421 IN
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423 Aytpical (see well-differentiat
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Cytogenetics of Solid Tumors 425 So
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Cytogenetics of Solid Tumors 427 ca
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Cytogenetics of Solid Tumors 429 do
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Cytogenetics of Solid Tumors 431 cl
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Cytogenetics of Solid Tumors 433 Fi
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Cytogenetics of Solid Tumors 439 no
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Cytogenetics of Solid Tumors 441 ch
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Cytogenetics of Solid Tumors 445 8.
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Cytogenetics of Solid Tumors 447 64
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454 Daynna Wolff and Stuart Schwart
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Fragile X 491 VI Beyond Chromosomes
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Fragile X 495 18 Fragile X From Cyt
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Fragile X 497 Fig. 1. Appearance of
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Fragile X 499 Table 4 Characteristi
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Fragile X 501 (KH domains) and clus
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Fragile X 503 have suggested differ
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Fragile X 505 The premutation form
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Fragile X 507 Table 4). FRAXE expan
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Fragile X 509 35. Heitz, D., Devys,
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Fragile X 511 93. Bennetto, L. and
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Fragile X 513 147. Oostra, B.A. and
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516 Jin-Chen Wang Fig. 1. Diagramma
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518 Jin-Chen Wang (50) and IGF2 (pa
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520 Jin-Chen Wang 3. Imprinting cer
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522 Jin-Chen Wang UNIPARENTAL DISOM
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524 Jin-Chen Wang Fig. 3. A diagram
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526 Jin-Chen Wang cause SRS (183).
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528 Jin-Chen Wang Studies comparing
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530 Jin-Chen Wang upd(21)pat Two ca
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532 Jin-Chen Wang 25. Ledbetter, D.
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534 Jin-Chen Wang 84. Bürger, J.,
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536 Jin-Chen Wang 138. Dryja, T.P.,
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538 Jin-Chen Wang 192. Karanjawala,
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540 Jin-Chen Wang 248. Creau-Goldbe
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542 Sarah Hutchings Clark condition
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544 Sarah Hutchings Clark the couns
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546 Sarah Hutchings Clark the coupl
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548 Sarah Hutchings Clark chromosom
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550 Sarah Hutchings Clark SMITH-MAG
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552 Sarah Hutchings Clark often at
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554 Sarah Hutchings Clark The relat
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556 Sarah Hutchings Clark Although,
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558 Sarah Hutchings Clark 33. Nicol
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560 Index Abnormalities, order of,
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562 Index Anus, imperforate, 310 AP
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564 Index CDK4, 394 CDK6, 396 CDKN2
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566 Index mosaicism, in amniotic fl
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568 Index Cutaneous anaplastic larg
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570 Index proximal 15q, 178, t179 p
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572 Index Folic acid pathway, 75 Fo
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574 Index Hereditary neuropathy wit
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576 Index Intrachromosomal recombin
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578 Index Male-specific region, Y c
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580 Index MTX, 76 Mucosa-associated
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582 Index Octamer, 14 Okazaki fragm
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584 Index Premature separation of s
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586 Index Recombinant chromosomes n
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588 Index Sézary syndrome (SS), t3
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590 Index t(4;14), 475 t(5;10), 375
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592 Index Treacher Collins syndrome
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594 Index Xq deletions, 225 Y trans
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596 Index XX males, 467, f468 and a
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