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Prenatal Cytogenetics 315 85. Mastroiacovo, P. and Cavalcanti, D.P. (1991) Letter to the editor: Limb-reduction defects and chorion villus sampling. Lancet 337, 1091. 86. Hsieh, F-J., Chen, D., Tseng, L-H., et al. (1991) Letter to the editor: Limb-reduction defects and chorion villus sampling. Lancet 337, 1091–1092. 87. Monni, G., Ibba, R.M., Lai, R., Giovanni, O., and Cao, A. (1991) Letter to the editor: Limb-reduction defects and chorion villus sampling. Lancet 337, 1091. 88. Mahoney, M.J. (1991) Letter to the editor: Limb abnormalities and chorionic villus sampling. Lancet 337, 1422–1423. 89. Jackson, L.G., Wapner, R.J., and Brambati, B. (1991) Letter to the editor: Limb abnormalities and chorionic villus sampling. Lancet 337, 1423. 90. Jahoda, M.G.J., Brandenburg, H., Cohen-Overbeek, T., Los, F.J. Sachs, E.S., and Waldimiroff, J.W. (1993) Terminal transverse limb defects and early chorionic villus sampling: evaluation of 4,300 cases with completed follow-up. Am. J. Med. Genet. 46, 483–485. 91. Holmes, L.B. (1993) Report of National Institute of Child Health and Human Development Workshop on Chorionic Villus Sampling and Limb and Other Defects, October 20, 1992. Teratology 48, 7–13. 92. Mastroiacovo, P., Tozzi, A.E., Agosti, S., et al. (1993) Transverse limb reduction defects after chorion villus sampling: a retrospective cohort study. Prenat. Diagn. 13, 1051–1056. 93. Hsieh, F-J., Shyu, M-K., Sheu, B-C., Lin, S-P., Chen, C-P., and Huang, F-Y. (1995) Limb defects after chorionic villus sampling. Obstet. Gynecol. 85(1), 84–88. 94. Olney, R.S., Khoury, M.J., Alo, C.J., et al. (1995) Increased risk for transverse digital deficiency after chorionic villus sampling: results of the United States Multistate Case-Control Study, 1988–1992. Teratology 51, 20–29. 95. Froster, U.G. and Jackson, L. (1996) Limb defects and chorionic villus sampling: results from an international registry, 1992–94. Lancet 347, 489–494. 96. Kuliev, A., Jackson, L., Froster, U., et al. (1996) Chorionic villus sampling safety. Am. J. Obstet. Gynecol. 174(3), 807–811. 97. Halliday, J., Lumley, J., Sheffield, L.J., and Lancaster, P.A.L. (1993) Limb deficiencies, chorion villus sampling, and advanced maternal age. Am. J. Med. Genet. 47, 1096–1098. 98. Department of Health and Human Services (1993) International Classfication of Diseases, 9th ed. p. 99. 99. Mastroiacovo, P. and Botto, L.D. (1994) Chorionic villus sampling and transverse limb deficiencies: maternal age is not a confounder. Am. J. Med. Genet. 53, 182–186. 100. Cutillo, D.M., Hammond, E.A., Reeser, S.L., et al. (1994) Chorionic villus sampling utilization following reports of a possible association with fetal limb defects. Prenat. Diagn. 14, 327–332. 101. California Genetic Disease Branch. Unpublished data. 102. Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., et al. (1989) The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N. Engl. J. Med. 320(10), 609–617. 103. Silver, R.K., MacGregor, S.N., Sholl, J.S., Hobart, E.D., and Waldee, J.K. (1990) An evaluation of the chorionic villus sampling learning curve. Am. J. Obstet. Gynecol. 163(3), 917–922. 104. Meade, T.W., Ämmälä, P., Aynsley-Green, A., et al. (1991) Medical Research Council European trial of chorion villus sampling. Lancet 337, 1491–1499. 105. Centers for Disease Control and Prevention. (1995) Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. MMWR 44(RR-9), 1–12. 106. Brambati, B., Lanzani, A., and Tului, L. (1990) Transabdominal and transcervical chorionic villus sampling: efficiency and risk evaluation of 2,411 cases. Am. J. Med. Genet. 35, 160–164. 107. Brambati, B., Trzian, E., and Tognoni, G. (1991) Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods. Prenat. Diagn. 11, 285–293. 108. Smidt-Jensen, S. and Hahnemann, N. (1988) Transabdominal chorionic villus sampling for fetal genetic diagnosis. Technical and obstetrical evaluation of 100 cases. Prenat. Diagn. 8, 7–17. 109. Kalousek, D.K. and Dill, F.J. (1983) Chromosomal mosaicism confined to the placenta in human conceptions. Science 221, 665–667. 110. Verjaal, M., Leschot, N.J., Wolf, H., and Treffers, P.E. (1987) Karyotypic differences between cells from placenta and other fetal tissues. Prenat. Diagn. 7, 343–348. 111. Hogge, W.A., Schonberg, S.A., and Golbus, M.S. (1986) Chorionic villus sampling: experience of the first 1000 cases. Am. J. Obstet. Gynecol. 154(6), 1249–1252. 112. Harrison, K., 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. 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316 Linda Marie Randolph 116. Wang, B.T., Rubin, C.H., and Williams, J. (1993) Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat. Diagn. 13, 179–190. 117. Wang, B.T., Peng, W., Cheng, K.T., et al. (1994) Chorionic villi sampling: laboratory experience with 4,000 consecutive cases. Am. J. Med. Genet. 53, 307–316. 118. Smith, K., Gregson, N.M., Howell, R.T., Pearson, J., and Wolstenholme, J. (1994) Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Prenat. Diagn. 14, 363–379. 119. Wolstenholme, J., Rooney, D.E., and Davison, E.V. (1994) Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenat. Diagn. 14, 345–361. 120. Kalousek, D.K., Howard-Peebles, P.N., Olson, S.B., et al. 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Diagn. 21, 1150–1158. 125. Sago, H., Chen, E., Conte, W.J., et al. (1997) True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities. Am. J. Med. Genet. 72, 343–346. 126. Kivirikko, S., Salonen, R., Salo, A., and von Koskull, H. (2002) Prenatally detected trisomy 7 mosacisim in a dysmorphic child. Prenat. Diagn. 13, 1239–1240. 127. Klein, J., Graham, J.M., Platt, L.D., and Schreck, R. (1994) Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues. Prenat. Diagn. 14, 451–454. 128. Weiner, C.P. and Okamura, K. (1996) Diagnostic fetal blood sampling—technique related losses. Fetal Diagn. Ther. 11, 169–175. 129. Orlandi, F., Damiani, G., Jakil, C., Lauricella, S., Bertolino, O., and Maggio, A. (1990) The risks of early cordocentesis (12–21 weeks): analysis of 500 procedures. Prenat. Diagn. 10, 425–428. 130. Weiner, C.P. (1988) Cordocentesis. Obstet. Gynecol. Clin. North Am. 15(2), 283–301. 131. Boulot, P., Deschamps, F., Lefort, G., et al. (1990) Pure fetal blood samples obtained by cordocentesis: technical aspects of 322 cases. Prenat. Diagn. 10, 93–100. 132. Maxwell, D.J., Johnson, P., Hurley, P., Neales, K., Allan, L., and Knott, P. (1991) Fetal blood sampling and pregnancy loss in relation to indication. Br. J. Obstet. Gynaecol. 98, 892–897. 133. Watson, M.S., Breg, W.R., Hobbins, J.C., and Mahoney, M.J. (1984) Cytogenetic diagnosis using midtrimester fetal blood samples: application to suspected mosaicism and other diagnostic problems. Am. J. Med. Genet. 19, 805–813. 134. Shalev, E., Zalel, Y., Weiner, E., Cohen, H., and Shneur, Y. (1994) The role of cordocentesis in assessment of mosaicism found in amniotic fluid cell culture. Acta Obstet. Gynecol. Scand. 73, 119–122. 135. Liou, J.D., Chen, C-P., Breg, W.R., Hobbins, J.C., Mahoney, M.J., and Yang-Feng, T.L. (1993) Fetal blood sampling and cytogenetic abnormalities. Prenat. Diagn. 13, 1–8. 136. 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Landwehr, J.B., Jr., Johnson, M.P., Hume, R.F., Yaron, Y., Sokol, R.J., and Evans, M.I. (1996) Abnormal nuchal findings on screening ultrasonography: aneuploidy stratification on the basis of ultrasonographic anomaly and gestational age at detection. Am. J. Obstet. Gynecol. 175, 995–999. 143. Grandjean, H. and Sarramon, M.F. (1995) Sonographic measurement of nuchal skinfold thickness for detection of Down syndrome in the second-trimester fetus: a multicenter prospective study. Obstet. Gynecol. 85, 103–106. 144. Nadel, A., Bromley, B., and Benacerraf, B.R. (1993) Nuchal thickening or cystic hygromas in first- and early secondtrimester fetuses: prognosis and outcome. Obstet. Gynecol. 82, 43–48.
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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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Page 283 and 284: 268 Linda Marie Randolph By 1986, m
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Page 297 and 298: 282 Linda Marie Randolph In 1995, O
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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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