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The Principles of Clinical Cytogenetics
Page 1: The Principles of Clinical Cytogene
Page 5 and 6: © 2005 Humana Press Inc. 999 River
Page 7 and 8: vi Preface envisioned when ISCN 199
Page 9 and 10: viii Preface to First Edition The P
Page 11 and 12: x Contents 9 Structural Chromosome
Page 14: Value-Added eBook/PDA on CD-ROM Thi
Page 18 and 19: History of Clinical Cytogenetics 3
Page 24 and 25: DNA, Chromosomes, and Cell Division
Page 40: DNA, Chromosomes, and Cell Division
Page 43 and 44: 28 Avirachan Tharapel Table 1 Inter
Page 45 and 46: 30 Avirachan Tharapel Fig. 2. Norma
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38 Avirachan Tharapel Fig. 5. (cont
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48 Avirachan Tharapel tation relati
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50 Avirachan Tharapel Whole-Arm Tra
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52 Avirachan Tharapel Composite Kar
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54 Avirachan Tharapel Prophase or M
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56 Avirachan Tharapel The patient a
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58 Avirachan Tharapel nuc ish 9q34(
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Basic Laboratory Procedures 61 Edit
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64 Martha Keagle and Steven Gersen
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Fundamentals of Microscopy 81 INTRO
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Fundamentals of Microscopy 83 Fig.
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Fundamentals of Microscopy 85 Immer
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Fundamentals of Microscopy 87 lengt
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Fundamentals of Microscopy 89 FLUOR
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Fundamentals of Microscopy 91 Immer
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94 Michael Watson and Steven Gersen
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100 Michael Watson and Steven Gerse
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114 Steven Gersen and Lotte Downey
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132 Jin-Chen Wang
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134 Jin-Chen Wang “gene-rich” c
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136 Jin-Chen Wang Fig. 1. Schematic
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138 Jin-Chen Wang Fig. 3. Schematic
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140 Jin-Chen Wang Fig. 4. Trisomy 2
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142 Jin-Chen Wang Recurrence The em
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144 Jin-Chen Wang methods and sugge
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146 Jin-Chen Wang joints, bone dysp
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148 Jin-Chen Wang with multiple mal
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150 Jin-Chen Wang microcephaly and
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152 Jin-Chen Wang and head circumfe
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154 Jin-Chen Wang The most frequent
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156 Jin-Chen Wang 16. Robinson, W.P
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158 Jin-Chen Wang 80. Kohn, G. and
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160 Jin-Chen Wang 140. Kayser, M.,
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162 Jin-Chen Wang 202. Aughton, D.J
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164 Jin-Chen Wang 259. Spinner, N.B
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166 Kathleen Kaiser-Rogers and Kath
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176 Table 1 Some Recurring Deletion
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208 Cynthia Powell Fig. 1. Ideogram
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210 Cynthia Powell chromosome abnor
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212 Cynthia Powell Fig. 3. Child wi
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214 Cynthia Powell Fig. 4. Normal X
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216 Cynthia Powell Origin Most 47,X
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218 Cynthia Powell Phenotype Males
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220 Cynthia Powell 49,XXXXY and 49,
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222 Cynthia Powell STRUCTURAL ABNOR
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224 Cynthia Powell Fig. 5. Balanced
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226 Cynthia Powell Xp Duplications
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228 Cynthia Powell Most males with
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230 Cynthia Powell Type 4 patients
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232 Cynthia Powell contains two gen
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234 Cynthia Powell Gujerati Muslim
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236 Cynthia Powell Pseudohermaphrod
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238 Cynthia Powell 48. Hsu, L.Y.F.
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240 Cynthia Powell 110. Borghgraef,
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242 Cynthia Powell 172. Keitges, E.
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244 Cynthia Powell 229. Bardoni, B.
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246 Cynthia Powell 291. McCabe, E.
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248 Linda Marie Randolph Fig. 1. Fl
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250 Linda Marie Randolph Fig. 2. An
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252 Linda Marie Randolph Table 2 Ge
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254 Table 5 Genetic Conditions in W
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256 Linda Marie Randolph In a revie
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258 Table 6 Constitutional Cytogene
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260 Linda Marie Randolph Table 8 Co
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262 Linda Marie Randolph chromosome
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264 Linda Marie Randolph 6. Magee,
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Prenatal Cytogenetics 267 From: The
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Prenatal Cytogenetics 269 Daffos et
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Prenatal Cytogenetics 271 Table 2 M
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273 Table 5 Frequencies of Chromoso
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Prenatal Cytogenetics 275 women wit
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Prenatal Cytogenetics 277 centesis
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Prenatal Cytogenetics 279 and the p
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Prenatal Cytogenetics 281 (85,86).
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Prenatal Cytogenetics 283 statistic
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Prenatal Cytogenetics 285 Table 10
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Prenatal Cytogenetics 287 fetuses.
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Prenatal Cytogenetics 289 Fig. 2. R
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Prenatal Cytogenetics 291 ined the
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Prenatal Cytogenetics 295 21 fetuse
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Prenatal Cytogenetics 297 A study i
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Prenatal Cytogenetics 299 to explai
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Prenatal Cytogenetics 301 Fig. 7. U
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Prenatal Cytogenetics 305 genetic d
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Prenatal Cytogenetics 307 to women
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Prenatal Cytogenetics 309 somic cel
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Prenatal Cytogenetics 313 24. Hsu,
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Prenatal Cytogenetics 315 85. Mastr
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Prenatal Cytogenetics 317 145. van
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Prenatal Cytogenetics 319 203. Bena
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Prenatal Cytogenetics 321 263. Bui,
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324 Solveig Pflueger Table 1 Intrau
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326 Solveig Pflueger Table 5 Prenat
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328 Solveig Pflueger percentage of
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330 Solveig Pflueger Table 8 Effect
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332 Solveig Pflueger Fig. 2. 45,X s
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334 Solveig Pflueger diploid/triplo
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336 Solveig Pflueger be repressed (
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338 Solveig Pflueger on embryonic d
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340 Solveig Pflueger Table 9 Phenot
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342 Solveig Pflueger 3. Friedman, R
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344 Solveig Pflueger 67. LaVecchia,
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Chromosome Instability 347 INTRODUC
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Chromosome Instability 349 Table 1
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Chromosome Instability 351 dromes.
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Chromosome Instability 353 Fig. 3.
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Chromosome Instability 361 32. Broe
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364 Rizwan Naeem
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366 Rizwan Naeem One important obje
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368 Rizwan Naeem Table 1 Disease Ca
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370 Rizwan Naeem Table 1 (continued
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372 Rizwan Naeem Cytogenetics plays
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374 Rizwan Naeem Fig. 2. Representa
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376 Rizwan Naeem proliferation and
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378 Rizwan Naeem Refractory Anemia
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380 Rizwan Naeem The WHO classifica
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382 Rizwan Naeem Molecular studies
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384 Rizwan Naeem cytogenetic findin
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386 Rizwan Naeem Fig. 3. Double min
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388 Table 5 (continued) Cytogenetic
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390 Table 5 (continued) Cytogenetic
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392 Rizwan Naeem As lymphocytes dif
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394 Rizwan Naeem Cytogenetic abnorm
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396 Rizwan Naeem involvement, rapid
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398 Rizwan Naeem cleaved cell lymph
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400 Rizwan Naeem Diffuse Large B-Ce
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402 Rizwan Naeem • Other extranod
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404 Rizwan Naeem Mycosis Fungoides
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406 Rizwan Naeem ALK encodes a tyro
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408 Rizwan Naeem have plentiful sli
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410 Rizwan Naeem 4. Nowell, P.C. an
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412 Rizwan Naeem 62. Brunning, R.D.
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414 Rizwan Naeem 116. Dèohner, H.,
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416 Rizwan Naeem 169. Rosenberg, C.
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418 Rizwan Naeem 227. Feller, A.C.,
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420 Rizwan Naeem 279. Longley, B.J.
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422 Table 1 Typical Cytogenetic Abe
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424 Table 2 Typical Cytogenetic Abe
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426 Jonathan Fletcher and more sens
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428 Jonathan Fletcher Fig. 1. Ewing
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430 Jonathan Fletcher Fig. 2. Typic
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432 Jonathan Fletcher Fig. 3. Metap
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434 Jonathan Fletcher malignant GIS
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436 Jonathan Fletcher Fig. 6. Neuro
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438 Jonathan Fletcher clear cell an
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440 Jonathan Fletcher Fig. 8. Karyo
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442 Jonathan Fletcher ERBB2 amplifi
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444 Jonathan Fletcher laboratories.
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446 Jonathan Fletcher 37. de Alava,
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448 Jonathan Fletcher 91. Knezevich
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450 Jonathan Fletcher 148. Crotty,
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Fluorescence In Situ Hybridization
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Fragile X 493 Editors’ Foreword t
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496 Dana Crawford and Patricia Howa
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Genomic Imprinting and Uniparental
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Genetic Counseling 541 INTRODUCTION
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Genetic Counseling 543 Fig. 1. Pedi
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Genetic Counseling 545 autosome, an
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Genetic Counseling 547 Table 1 Risk
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Genetic Counseling 549 Microdeletio
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Genetic Counseling 551 adult a pote
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Genetic Counseling 553 fetal amnioc
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Genetic Counseling 555 As previousl
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Genetic Counseling 557 3. Walker, A
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Index 559 11q23, 468 abnormalities,
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Index 561 Alternate segregation, 19
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Index 563 Biotin-streptavidin, 457
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Index 565 abnormality previous, and
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Index 567 in early amniocentesis, 2
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Index 569 Y chromosome, 231 Denys-D
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Index 571 Familial rearrangements,
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Index 573 G-banding, 70, f71 GCT, 6
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Index 575 specimen stains, 82 wavel
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Index 577 Japanese Society of Human
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Index 579 Williams syndrome, 459 Mi
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Index 581 meiosis II, 134, f138 mei
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Index 583 and intrauterine growth r
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Index 585 PDGFB (PDGFRβ), 372, 373
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Index 587 ribosomal, 13, 18, 74 rRN
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Index 589 SSX2, 476 Staff qualifica
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Index 591 Tetrasomy 18p, 153-154 fa
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Index 593 critical region, 143-144
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Index 595 V Variable expressivity,
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THE PRINCIPLES OF CLINICAL CYTOGENE
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