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Prenatal Cytogenetics 313 24. Hsu, L. (1998) Prenatal diagnosis through chorionic villus sampling. In Genetic Disorders and the Fetus, 4th ed. (Milunsky, A., ed.), Plenum, New York, pp. 150–178. 25. Kuliev, A., Jackson, L., Froster, U., et al. (1996) Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Disorders. Am. J. Obstet. Gynecol. 174(3), 807–811. 26. Valenti, C. (1973) Antenatal detection of hemoglobinopathies. Am. J. Obstet. Gynecol. 115(6), 851–853. 27. Hobbins, J.C. and Mahoney, M.J. (1974) In utero diagnosis of hemoglobinopathies. N. Engl. J. Med. 290(19), 1065–1067. 28. Daffos, F., Capella-Pavlovsky, M., and Forestier, F. (1983) A new procedure for fetal blood sampling in utero: preliminary results of fifty-three cases. Am. J. Obstet. Gynecol. 146(8), 985–987. 29. Daffos, F., Capella-Pavloksky, M., and Forestier, F. (1985) Fetal blood sampling during pregnancy with use of a needle guided by ultrasound: a study of 606 consecutive cases. Am. J. Obstet. Gynecol. 153(6), 655–660. 30. Hsu, L. (1998) Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In Genetic Disorders and the Fetus, 4th ed. (Milunsky, A., ed.), Plenum, New York, pp. 179–248. 31. Buckton, K.E., O’Riordan, M.L., Ratcliffe, S., Slight, J., Mitchell, M., and McBeath, S. (1980) A G-band study of chromosomes in liveborn infants. Ann. Hum. Genet. 43, 227–239. 32. Hook, E.B. (1978) Rates of Down’s syndrome in live births and at midtrimester amniocentesis. Lancet 1, 1053–1054. 33. Schreinemachers, D.M., Cross, P.K., and Hook, E.B. (1981) Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20,000 prenatal studies compared with estimated rates in live births. Hum. Genet. 61, 318–324. 34. Hook, E.B. (1983) Chromosome abnormalities and spontaneous fetal death following amniocentesis: further data and associations with maternal age. Am. J. Hum. Genet. 35, 110–116. 35. Halliday, J.L., Watson, L.F., Lumley, J., Danks, D.M., and Sheffield, L.J. (1995) New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population. Prenat. Diagn. 15, 455–465. 36. Warburton, D. (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of break points. Am. J. Hum. Genet. 45, 995–1013. 37. Warburton, D., Byrne, J., and Canki, N. (1991) Chromosome Anomalies and Prenatal Development: An Atlas. Oxford University Press, New York. 38. Simpson, J.L. (1990) Incidence and timing of pregnancy losses: relevance to evaluating safety of early prenatal diagnosis. Am. J. Med. Genet. 35, 165–173. 39. Warburton, D., Kline, J., Stein, Z., and Susser, M. (1980) Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet 1, 167–169. 40. The NICHD National Registry for Amniocentesis Study Group. (1976) Midtrimester amniocentesis for prenatal diagnosis: safety and accuracy. JAMA 236(13), 1471–1476. 41. Rapp, R. (1993) Amniocentesis in sociocultural perspective. J. Genet. Counsel. 2(3), 183–196. 42. Tkachuk, D.C., Pinkel, D., Kuo, W.-L., Weier, H.-U., and Gray, J.W. (1991) Clinical applications of fluorescence in situ hybridization. Genet. Anal. Tech. Appl. 8(2), 67–74. 43. Klinger, K., Landes, G., Shook, D., et al. (1992) Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am. J. Hum. Genet. 51, 55–65. 44. Lebo, R.V., Flandermeyer, R.R., Diukman, R., Lynch, E.D., Lepercq, J.A., and Golbus, M.S. (1992) Prenatal diagnosis with repetitive in situ hybridization probes. Am. J. Med. Genet. 43, 848–854. 45. Callen, D.F., Freemantle, C.J., Ringenbergs, M.L., et al. (1990) The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am. J. Hum. Genet. 47, 493–498. 46. Callen, D.F., Eyre, H., Yip, M-Y., Freemantle, J., and Haan, E.A. (1992) Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. Am. J. Med. Genet. 43, 709–715. 47. Blennow, E., Bui, T-H., Kristoffersson, U., et al. (1994) Swedish survey on extra structurally abnormal chromosomes in 39,105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat. Diagn. 14, 1019–1028. 48. Brondum-Nielsen, K. and Mikkelsen, M. (1995) A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. Prenat. Diagn. 15, 615–619. 49. Bettio, D., Rizzi, N., Giardino, D., et al. (1997) FISH characterization of small supernumerary marker chromosomes in two Prader–Willi patients. Am. J. Med. Genet. 68, 99–104. 50. Gosden, C.M. (1983) Amniotic fluid cell types and culture. Br. Med. Bull. 39(4), 348–354. 51. Eiben, B., Goebel, R., Hansen, S., and Hammans, W. (1994) Early amniocentesis—a cytogenetic evaluation of over 1500 cases. Prenat. Diagn. 14, 497–501. 52. Leschot, N.J., Verjaal, M., and Treffers, P.E. (1985) Risks of midtrimester amniocentesis; assessment in 3000 pregnancies. Br. J. Obstet. Gynaecol. 92, 804–807. 53. Tabor, A., Madsen, M., Obel, E.B., Philip, J., Bang, J., and Norgaard-Pedersen, B. (1986) Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1, 1287–1292.
314 Linda Marie Randolph 54. Simpson, J.L., Mills, J.L., Holmes, L.B., et al. (1987) Low fetal loss rates after ultrasound-proved viability in early pregnancy. JAMA 258, 2555–2557. 55. Pauker, S.P. and Pauker, S.G. (1979) The amniocentesis decision: an explicit guide for parents. Birth Defects: Original Article Series 15(5C), 289–324. 56. Evans, M.I., Drugan, A., Koppitch, F.C., Zador, I.E., Sacks, A.J., and Sokol, R. (1989) Genetic diagnosis in the first trimester: the norm for the 1990s. Am. J. Obstet. Gynecol. 160, 1332–1339. 57. Evans, M.I., Johnson, M.P., and Holzgreve, W. (1994) Early amniocentesis—what exactly does it mean? J. Reprod. Med. 39, 77–78. 58. Burrows, P.E., Lyons, E.A., Phillips, H.J., and Oates, I. (1982) Intrauterine membranes: sonographic findings and clinical significance. J. Clin. Ultrasound 10, 1–8. 59. Hanson, F.W., Zorn, E.M., Tennant, F.R., Marianos, S., and Samuels, S. (1987) Amniocentesis before 15 weeks’ gestation: outcome, risks, and technical problems. Am. J. Obstet. Gynecol. 156, 1524–1531. 60. Johnson, A. and Godmilow, L. (1988) Genetic amniocentesis at 14 weeks or less. Clin. Obstet. Gynecol. 31(2), 345–352. 61. Wald, N.J., Terzian, E., and Vickers, P.A. (1983) Congenital talipes and hip malformation in relation to amniocentesis: a case-control study. Lancet 2, 246–249. 62. Stripparo, L., Buscaglia, M., Longatti, L., et al. (1990) Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation. Prenat. Diagn. 10, 359–365. 63. Elejalde, B.R., de Elejalde, M.M., Acuna, J.M., Thelen, D., Trujillo, C., and Marrmann, M. (1990) Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: its feasibility, risks, complications and use in early genetic prenatal diagnosis. Am. J. Med. Genet. 35, 188–196. 64. Penso, C.A., Sandstrom, M.M., Garber, M.-F., Ladoulis, M., Stryker, J.M., and Benacerraf, B.B. (1990) Early amniocentesis: report of 407 cases with neonatal follow-up. Obstet. Gynecol. 76, 1032–1036. 65. Hanson, F.W., Happ, R.L., Tennant, F.R., Hune, S., and Peterson, A.G. (1990) Ultrasonography-guided early amniocentesis in singleton pregnancies. Am. J. Obstet. Gynecol. 162, 1376–1383. 66. Hackett, G.A., Smith, J.H., Rebello, M.T., et al. (1991) Early amniocentesis at 11–14 weeks’ gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation. Prenat. Diagn. 11, 311–315. 67. Crandall, B.F., Kulch, P., and Tabsh, K. (1994) Risk assessment of amniocentesis between 11 and 15 weeks: comparison to later amniocentesis controls. Prenat. Diagn. 14, 913–919. 68. Kerber, S. and Held, K.R. (1993) Early genetic amniocentesis—4 years’ experience. Prenat. Diagn. 13, 21–27. 69. Lockwood, D.H. and Neu, R.L. (1993) Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 14 weeks. Prenat. Diagn. 13, 801–805. 70. Diaz Vega, M., de la Cueva, P., Leal, C., and Aisa, F. (1996) Early amniocentesis at 10–12 weeks’ gestation. Prenat. Diagn. 16, 307–312. 71. Brumfield, C.G., Lin, S., Conner, W., Cosper, P., Davis, R.O., and Owen, J. (1996) Pregnancy outcome following genetic amniocentesis at 11–14 versus 16–19 weeks’ gestation. Obstet. Gynecol. 88, 114–118. 72. Bravo, R.R., Shulman, L.P., Phillips, O.P., Grevengood, C., and Martens, P.R. (1995) Transplacental needle passage in early amniocentesis and pregnancy loss. Obstet. Gynecol. 86, 437–440. 73. Wilson, R.D. (1995) Early amniocentesis: a clinical review. Prenat. Diagn. 15, 1259–1273. 74. Shulman, L.P., Elias, S., Phillips, O.P., Grevengood, C., Dungan, J.S., and Simpson, J.L.. (1994) Amniocentesis performed at 14 weeks’ gestation or earlier: comparison with first-trimester transabdominal chorionic villus sampling. Obstet. Gynecol. 83, 543–548. 75. Nicolaides, K., de Lourdes Brizot, M., Patel, F., and Snijders, R. (1994) Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10–13 weeks’ gestation. Lancet 344, 435–439. 76. Saura, R., Roux, D., Taine, L., et al. (1994) Early amniocentesis versus chorionic villus sampling for fetal karyotyping. Lancet 344, 825–826. 77. Bombard, A.T., Carter, S.M., and Nitowsky, H.M. (1994) Early amniocentesis versus chorionic villus sampling for fetal karyotyping. Lancet 344, 826. 78. Vandenbussche, F.P.H.A., Kanhai, H.H.H., and Keirse, M.J.N.C. (1994) Safety of early amniocentesis. Lancet 344, 1032 (letter) . 79. Eiben, B., Osthelder, B., Hamman, W., and Goebel, R. (1994) Safety of early amniocentesis versus CVS. Lancet 344, 1303–1304 (letter) . 80. Crandall, B.F., Hanson, F.W., Tennant, F., and Perdue, S.T. (1989) α-Fetoprotein levels in amniotic fluid between 11 and 15 weeks. Am. J. Obstet. Gynecol. 160, 1204–1206. 81. Jackson, L., personal communication. 82. Nevin, J., Nevin, N.C., Dornan, J.C., Sim, D., and Armstrong, M.J. (1990) Early amniocentesis: experience of 222 consecutive patients, 1987–1988. Prenat. Diagn. 10, 79–83. 83. Boyd, P.A., Keeling, J.W., Selinger, M., and MacKenzie, I.Z. (1990) Limb reduction and chorion villus sampling. Prenat. Diagn. 10, 437–441. 84. Firth, H.V., Boyd, P.A., Chamberlain, P., MacKenzie, I.Z., Lindenbaum, R.H., and Huson, S.M. (1991) Severe limb abnormalities after chorion villus sampling at 56–66 days’ gestation. Lancet 337, 762–763.
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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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Page 283 and 284: 268 Linda Marie Randolph By 1986, m
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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.
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Cytogenetics of Hematologic Neoplas
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387 Table 5 Association of Recurren
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389 del(8)(q22) t(8;16)(p11.2;p13)
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391 +17 -17 2° assoc. with +21 i(1
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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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