The Principles of Clinical Cytogenetics - Extra Materials - Springer

More documents

Recommendations

Info

Value-Added eBook/PDA on CD-ROM This book is accompanied by a value-added CD-ROM that contains an eBook version of the volume you have just purchased. This eBook can be viewed on your computer, and you can synchronize it to your PDA for viewing on your handheld device. The eBook enables you to view this volume on only one computer and PDA. Once the eBook is installed on your computer, you cannot download, install, or e-mail it to another computer; it resides solely with the computer to which it is installed. The license provided is for only one computer. The eBook can only be read using Adobe ® Reader ® 6.0 software, which is available free from Adobe Systems Incorporated at www.Adobe.com. You may also view the eBook on your PDA using the Adobe ® PDA Reader ® software that is also available free from Adobe.com. You must follow a simple procedure when you install the eBook/PDA that will require you to connect to the Humana Press website in order to receive your license. Please read and follow the instructions below: 1. Download and install Adobe ® Reader ® 6.0 software You can obtain a free copy of the Adobe ® Reader ® 6.0 software at www.adobe.com *Note: If you already have the Adobe ® Reader ® 6.0 software installed, you do not need to reinstall it. 2. Launch Adobe ® Reader ® 6.0 software 3. Install eBook: Insert your eBook CD into your CD-ROM drive PC: Click on the “Start” button, then click on “Run” At the prompt, type “d:\ebookinstall.pdf” and click “OK” *Note: If your CD-ROM drive letter is something other than d: change the above command accordingly. MAC: Double click on the “eBook CD” that you will see mounted on your desktop. Double click “ebookinstall.pdf” 4. Adobe ® Reader ® 6.0 software will open and you will receive the message “This document is protected by Adobe DRM” Click “OK” *Note: If you have not already activated the Adobe ® Reader ® 6.0 software, you will be prompted to do so. Simply follow the directions to activate and continue installation. Your web browser will open and you will be taken to the Humana Press eBook registration page. Follow the instructions on that page to complete installation. You will need the serial number located on the sticker sealing the envelope containing the CD-ROM. If you require assistance during the installation, or you would like more information regarding your eBook and PDA installation, please refer to the eBookManual.pdf located on your cd. If you need further assistance, contact Humana Press eBook Support by e-mail at: ebooksupport@humanapr. com or by phone at 973-256-1699. *Adobe and Reader are either registered trademarks or trademarks of Adobe Systems Incorporated in the United States and/or other countries. xiii
Page 1 and 2: The Principles of Clinical Cytogene
Page 4 and 5: The Principles of Clinical Cytogene
Page 6 and 7: v Preface In the summer of 1989, on
Page 8 and 9: vii Preface to First Edition The st
Page 10 and 11: ix Contents Preface ...............
Page 12: Contributors SARAH HUTCHINGS CLARK,
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
Page 47 and 48: 32 Avirachan Tharapel Fig. 4. A com
Page 49 and 50: 34 Avirachan Tharapel Fig. 5. Idiog
Page 51 and 52: 36 Avirachan Tharapel Fig. 5. (cont
Page 63 and 64:
48 Avirachan Tharapel tation relati
Page 65 and 66:
50 Avirachan Tharapel Whole-Arm Tra
Page 67 and 68:
52 Avirachan Tharapel Composite Kar
Page 69 and 70:
54 Avirachan Tharapel Prophase or M
Page 71 and 72:
56 Avirachan Tharapel The patient a
Page 73 and 74:
58 Avirachan Tharapel nuc ish 9q34(
Page 76:
Basic Laboratory Procedures 61 Edit
Page 79 and 80:
64 Martha Keagle and Steven Gersen
Page 81 and 82:
Page 83 and 84:
Page 85 and 86:
Page 87 and 88:
Page 89 and 90:
Page 91 and 92:
Page 93 and 94:
Page 96 and 97:
Fundamentals of Microscopy 81 INTRO
Page 98 and 99:
Fundamentals of Microscopy 83 Fig.
Page 100 and 101:
Fundamentals of Microscopy 85 Immer
Page 102 and 103:
Fundamentals of Microscopy 87 lengt
Page 104 and 105:
Fundamentals of Microscopy 89 FLUOR
Page 106:
Fundamentals of Microscopy 91 Immer
Page 109 and 110:
94 Michael Watson and Steven Gersen
Page 111 and 112:
Page 113 and 114:
Page 115 and 116:
100 Michael Watson and Steven Gerse
Page 117 and 118:
Page 119 and 120:
Page 121 and 122:
Page 123 and 124:
Page 125 and 126:
Page 127 and 128:
Page 129 and 130:
114 Steven Gersen and Lotte Downey
Page 131 and 132:
Page 133 and 134:
Page 135 and 136:
Page 137 and 138:
Page 139 and 140:
Page 141 and 142:
Page 143 and 144:
Page 145 and 146:
Page 147 and 148:
132 Jin-Chen Wang
Page 149 and 150:
134 Jin-Chen Wang “gene-rich” c
Page 151 and 152:
136 Jin-Chen Wang Fig. 1. Schematic
Page 153 and 154:
138 Jin-Chen Wang Fig. 3. Schematic
Page 155 and 156:
140 Jin-Chen Wang Fig. 4. Trisomy 2
Page 157 and 158:
142 Jin-Chen Wang Recurrence The em
Page 159 and 160:
144 Jin-Chen Wang methods and sugge
Page 161 and 162:
146 Jin-Chen Wang joints, bone dysp
Page 163 and 164:
148 Jin-Chen Wang with multiple mal
Page 165 and 166:
150 Jin-Chen Wang microcephaly and
Page 167 and 168:
152 Jin-Chen Wang and head circumfe
Page 169 and 170:
154 Jin-Chen Wang The most frequent
Page 171 and 172:
156 Jin-Chen Wang 16. Robinson, W.P
Page 173 and 174:
158 Jin-Chen Wang 80. Kohn, G. and
Page 175 and 176:
160 Jin-Chen Wang 140. Kayser, M.,
Page 177 and 178:
162 Jin-Chen Wang 202. Aughton, D.J
Page 179 and 180:
164 Jin-Chen Wang 259. Spinner, N.B
Page 181 and 182:
166 Kathleen Kaiser-Rogers and Kath
Page 183 and 184:
Page 185 and 186:
Page 187 and 188:
Page 189 and 190:
Page 191 and 192:
176 Table 1 Some Recurring Deletion
Page 193 and 194:
Page 195 and 196:
Page 197 and 198:
Page 199 and 200:
Page 201 and 202:
Page 203 and 204:
Page 205 and 206:
Page 207 and 208:
Page 209 and 210:
Page 211 and 212:
Page 213 and 214:
Page 215 and 216:
Page 217 and 218:
Page 219 and 220:
Page 221 and 222:
Page 223 and 224:
208 Cynthia Powell Fig. 1. Ideogram
Page 225 and 226:
210 Cynthia Powell chromosome abnor
Page 227 and 228:
212 Cynthia Powell Fig. 3. Child wi
Page 229 and 230:
214 Cynthia Powell Fig. 4. Normal X
Page 231 and 232:
216 Cynthia Powell Origin Most 47,X
Page 233 and 234:
218 Cynthia Powell Phenotype Males
Page 235 and 236:
220 Cynthia Powell 49,XXXXY and 49,
Page 237 and 238:
222 Cynthia Powell STRUCTURAL ABNOR
Page 239 and 240:
224 Cynthia Powell Fig. 5. Balanced
Page 241 and 242:
226 Cynthia Powell Xp Duplications
Page 243 and 244:
228 Cynthia Powell Most males with
Page 245 and 246:
230 Cynthia Powell Type 4 patients
Page 247 and 248:
232 Cynthia Powell contains two gen
Page 249 and 250:
234 Cynthia Powell Gujerati Muslim
Page 251 and 252:
236 Cynthia Powell Pseudohermaphrod
Page 253 and 254:
238 Cynthia Powell 48. Hsu, L.Y.F.
Page 255 and 256:
240 Cynthia Powell 110. Borghgraef,
Page 257 and 258:
242 Cynthia Powell 172. Keitges, E.
Page 259 and 260:
244 Cynthia Powell 229. Bardoni, B.
Page 261 and 262:
246 Cynthia Powell 291. McCabe, E.
Page 263 and 264:
248 Linda Marie Randolph Fig. 1. Fl
Page 265 and 266:
250 Linda Marie Randolph Fig. 2. An
Page 267 and 268:
252 Linda Marie Randolph Table 2 Ge
Page 269 and 270:
254 Table 5 Genetic Conditions in W
Page 271 and 272:
256 Linda Marie Randolph In a revie
Page 273 and 274:
258 Table 6 Constitutional Cytogene
Page 275 and 276:
260 Linda Marie Randolph Table 8 Co
Page 277 and 278:
262 Linda Marie Randolph chromosome
Page 279 and 280:
264 Linda Marie Randolph 6. Magee,
Page 282 and 283:
Prenatal Cytogenetics 267 From: The
Page 284 and 285:
Prenatal Cytogenetics 269 Daffos et
Page 286 and 287:
Prenatal Cytogenetics 271 Table 2 M
Page 288 and 289:
273 Table 5 Frequencies of Chromoso
Page 290 and 291:
Prenatal Cytogenetics 275 women wit
Page 292 and 293:
Prenatal Cytogenetics 277 centesis
Page 294 and 295:
Prenatal Cytogenetics 279 and the p
Page 296 and 297:
Prenatal Cytogenetics 281 (85,86).
Page 298 and 299:
Prenatal Cytogenetics 283 statistic
Page 300 and 301:
Prenatal Cytogenetics 285 Table 10
Page 302 and 303:
Prenatal Cytogenetics 287 fetuses.
Page 304 and 305:
Prenatal Cytogenetics 289 Fig. 2. R
Page 306 and 307:
Prenatal Cytogenetics 291 ined the
Page 308 and 309:
Page 310 and 311:
Prenatal Cytogenetics 295 21 fetuse
Page 312 and 313:
Prenatal Cytogenetics 297 A study i
Page 314 and 315:
Prenatal Cytogenetics 299 to explai
Page 316 and 317:
Prenatal Cytogenetics 301 Fig. 7. U
Page 318 and 319:
Page 320 and 321:
Prenatal Cytogenetics 305 genetic d
Page 322 and 323:
Prenatal Cytogenetics 307 to women
Page 324 and 325:
Prenatal Cytogenetics 309 somic cel
Page 326 and 327:
Page 328 and 329:
Prenatal Cytogenetics 313 24. Hsu,
Page 330 and 331:
Prenatal Cytogenetics 315 85. Mastr
Page 332 and 333:
Prenatal Cytogenetics 317 145. van
Page 334 and 335:
Prenatal Cytogenetics 319 203. Bena
Page 336:
Prenatal Cytogenetics 321 263. Bui,
Page 339 and 340:
324 Solveig Pflueger Table 1 Intrau
Page 341 and 342:
326 Solveig Pflueger Table 5 Prenat
Page 343 and 344:
328 Solveig Pflueger percentage of
Page 345 and 346:
330 Solveig Pflueger Table 8 Effect
Page 347 and 348:
332 Solveig Pflueger Fig. 2. 45,X s
Page 349 and 350:
334 Solveig Pflueger diploid/triplo
Page 351 and 352:
336 Solveig Pflueger be repressed (
Page 353 and 354:
338 Solveig Pflueger on embryonic d
Page 355 and 356:
340 Solveig Pflueger Table 9 Phenot
Page 357 and 358:
342 Solveig Pflueger 3. Friedman, R
Page 359 and 360:
344 Solveig Pflueger 67. LaVecchia,
Page 362 and 363:
Chromosome Instability 347 INTRODUC
Page 364 and 365:
Chromosome Instability 349 Table 1
Page 366 and 367:
Chromosome Instability 351 dromes.
Page 368 and 369:
Chromosome Instability 353 Fig. 3.
Page 370 and 371:
Page 372 and 373:
Page 374 and 375:
Page 376:
Chromosome Instability 361 32. Broe
Page 379 and 380:
364 Rizwan Naeem
Page 381 and 382:
366 Rizwan Naeem One important obje
Page 383 and 384:
368 Rizwan Naeem Table 1 Disease Ca
Page 385 and 386:
370 Rizwan Naeem Table 1 (continued
Page 387 and 388:
372 Rizwan Naeem Cytogenetics plays
Page 389 and 390:
374 Rizwan Naeem Fig. 2. Representa
Page 391 and 392:
376 Rizwan Naeem proliferation and
Page 393 and 394:
378 Rizwan Naeem Refractory Anemia
Page 395 and 396:
380 Rizwan Naeem The WHO classifica
Page 397 and 398:
382 Rizwan Naeem Molecular studies
Page 399 and 400:
384 Rizwan Naeem cytogenetic findin
Page 401 and 402:
386 Rizwan Naeem Fig. 3. Double min
Page 403 and 404:
388 Table 5 (continued) Cytogenetic
Page 405 and 406:
390 Table 5 (continued) Cytogenetic
Page 407 and 408:
392 Rizwan Naeem As lymphocytes dif
Page 409 and 410:
394 Rizwan Naeem Cytogenetic abnorm
Page 411 and 412:
396 Rizwan Naeem involvement, rapid
Page 413 and 414:
398 Rizwan Naeem cleaved cell lymph
Page 415 and 416:
400 Rizwan Naeem Diffuse Large B-Ce
Page 417 and 418:
402 Rizwan Naeem • Other extranod
Page 419 and 420:
404 Rizwan Naeem Mycosis Fungoides
Page 421 and 422:
406 Rizwan Naeem ALK encodes a tyro
Page 423 and 424:
408 Rizwan Naeem have plentiful sli
Page 425 and 426:
410 Rizwan Naeem 4. Nowell, P.C. an
Page 427 and 428:
412 Rizwan Naeem 62. Brunning, R.D.
Page 429 and 430:
414 Rizwan Naeem 116. Dèohner, H.,
Page 431 and 432:
416 Rizwan Naeem 169. Rosenberg, C.
Page 433 and 434:
418 Rizwan Naeem 227. Feller, A.C.,
Page 435 and 436:
420 Rizwan Naeem 279. Longley, B.J.
Page 437 and 438:
422 Table 1 Typical Cytogenetic Abe
Page 439 and 440:
424 Table 2 Typical Cytogenetic Abe
Page 441 and 442:
426 Jonathan Fletcher and more sens
Page 443 and 444:
428 Jonathan Fletcher Fig. 1. Ewing
Page 445 and 446:
430 Jonathan Fletcher Fig. 2. Typic
Page 447 and 448:
432 Jonathan Fletcher Fig. 3. Metap
Page 449 and 450:
434 Jonathan Fletcher malignant GIS
Page 451 and 452:
436 Jonathan Fletcher Fig. 6. Neuro
Page 453 and 454:
438 Jonathan Fletcher clear cell an
Page 455 and 456:
440 Jonathan Fletcher Fig. 8. Karyo
Page 457 and 458:
442 Jonathan Fletcher ERBB2 amplifi
Page 459 and 460:
444 Jonathan Fletcher laboratories.
Page 461 and 462:
446 Jonathan Fletcher 37. de Alava,
Page 463 and 464:
448 Jonathan Fletcher 91. Knezevich
Page 465 and 466:
450 Jonathan Fletcher 148. Crotty,
Page 468 and 469:
Fluorescence In Situ Hybridization
Page 470 and 471:
Page 472 and 473:
Page 474 and 475:
Page 476 and 477:
Page 478 and 479:
Page 480 and 481:
Page 482 and 483:
Page 484 and 485:
Page 486 and 487:
Page 488 and 489:
Page 490 and 491:
Page 492 and 493:
Page 494 and 495:
Page 496 and 497:
Page 498 and 499:
Page 500 and 501:
Page 502 and 503:
Page 504:
Page 508:
Fragile X 493 Editors’ Foreword t
Page 511 and 512:
496 Dana Crawford and Patricia Howa
Page 513 and 514:
Page 515 and 516:
Page 517 and 518:
Page 519 and 520:
Page 521 and 522:
Page 523 and 524:
Page 525 and 526:
Page 527 and 528:
Page 530 and 531:
Genomic Imprinting and Uniparental
Page 532 and 533:
Page 534 and 535:
Page 536 and 537:
Page 538 and 539:
Page 540 and 541:
Page 542 and 543:
Page 544 and 545:
Page 546 and 547:
Page 548 and 549:
Page 550 and 551:
Page 552 and 553:
Page 554 and 555:
Page 556 and 557:
Genetic Counseling 541 INTRODUCTION
Page 558 and 559:
Genetic Counseling 543 Fig. 1. Pedi
Page 560 and 561:
Genetic Counseling 545 autosome, an
Page 562 and 563:
Genetic Counseling 547 Table 1 Risk
Page 564 and 565:
Genetic Counseling 549 Microdeletio
Page 566 and 567:
Genetic Counseling 551 adult a pote
Page 568 and 569:
Genetic Counseling 553 fetal amnioc
Page 570 and 571:
Genetic Counseling 555 As previousl
Page 572 and 573:
Genetic Counseling 557 3. Walker, A
Page 574 and 575:
Index 559 11q23, 468 abnormalities,
Page 576 and 577:
Index 561 Alternate segregation, 19
Page 578 and 579:
Index 563 Biotin-streptavidin, 457
Page 580 and 581:
Index 565 abnormality previous, and
Page 582 and 583:
Index 567 in early amniocentesis, 2
Page 584 and 585:
Index 569 Y chromosome, 231 Denys-D
Page 586 and 587:
Index 571 Familial rearrangements,
Page 588 and 589:
Index 573 G-banding, 70, f71 GCT, 6
Page 590 and 591:
Index 575 specimen stains, 82 wavel
Page 592 and 593:
Index 577 Japanese Society of Human
Page 594 and 595:
Index 579 Williams syndrome, 459 Mi
Page 596 and 597:
Index 581 meiosis II, 134, f138 mei
Page 598 and 599:
Index 583 and intrauterine growth r
Page 600 and 601:
Index 585 PDGFB (PDGFRβ), 372, 373
Page 602 and 603:
Index 587 ribosomal, 13, 18, 74 rRN
Page 604 and 605:
Index 589 SSX2, 476 Staff qualifica
Page 606 and 607:
Index 591 Tetrasomy 18p, 153-154 fa
Page 608 and 609:
Index 593 critical region, 143-144
Page 610 and 611:
Index 595 V Variable expressivity,
Page 612:
THE PRINCIPLES OF CLINICAL CYTOGENE
show all

The Principles of Clinical Cytogenetics - Extra Materials - Springer

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?