The Principles of Clinical Cytogenetics - Extra Materials - Springer

More documents

Recommendations

Info

387 Table 5 Association of Recurrent Primary Chromosome Aberrations in AML with Protein, Molecular Abnormality, Clinical Characteristics and Prognosis Cytogenetic abnormality Gene(s) involved Protein Clinical characteristics/prognosis +1 del(1)(q21) i(1)(q10) t(1;3)(p36;q21) Preceded by MDS; dysmegakaryocytopoiesis t(1;11)(p32;q23) b AF1P (1p32) Murine eps 15 homolog MLL (11q23) Drosophilia trithorax homolog t(1;11)(q21;q23) b AF1Q (1q21) No homolog to any known protein MLL (11q23) Drosophilia trithorax homolog t(1;17)(q36;q21) t(1;22)(p13;q13) Thrombocytopenia, hepatosplenomegally, bone marrow fibrosis; 2° assoc. with der(1)t(1;22) del(2)(p21) del(2)(p23) t(2;11)(p21;q23) t(2;3)(p23;q25) +3 del(3)(q21) inv(3)(q21q26) a,d Ribophorin (3q21) RER transmembrane glycoprotein Poor prognosis EVI1 (3q26) Multiple zinc fingers t(3;3)(q21;q26) a,d,e Ribophorin (3q21) RER transmembrane glycoprotein EVI1 (3q26) Multiple zinc fingers t(3;5)(q25;q34) Megakaryocytosis; young age at diagnosis; Sweet’s syndrome t(3;11)(q21;q13) t(3;12)(q26;p13) t(3;21)(p14;q22) d t(3;21)(q26;q22) b,d EVI1 (3q26) Multiple zinc fingers Genotoxic exposure AML1 (21q22) CBFα, Drosophilia runt homolog t(3;21)(q26;q22) b EAP (3q26) Ribosomal protein L22 AML1 (21q22) Drosophilia runt homolog t(3;21)(q26;q22) b,d MDS1 (3q26) 40% homolog to RIZ AML1 (21q22) CBFα, Drosophilia runt homolog Cytogenetics of Hematologic Neoplasms 387 (continued)
388 Table 5 (continued) Cytogenetic abnormality Gene(s) involved Protein Clinical characteristics/prognosis +4 del(4)(p15) t(4;12)(q11–13;p13) +5 –5 Genotoxic exposure; poor prognosis del(5)(q13q33) f Genotoxic exposure; 2° assoc. with t(1;3), inv(3), –7/del(7q), poor prognosis t(5;16)(q33;q22) +6 del(6)(q21;22) del(6)(q15) i(6)(q10) t(6;9)(p23;q34)b DEK (6p23) Nuclear protein Preceded by MDS; bone marrow basophilia; young age CAN (9q34) nucleoporin at diagnosis; Auer rods t(6;11)(q27;q23) b,d AF6 (6q27) GLGF motif Localized infections MLL (11q23) Drosophilia trithorax homolog 2° assoc. with t(1;22) –7 Genotoxic exposure; 2° assoc. with inv(3); hepatosplenomegaly; poor prognosis del(7)(p12p21) del(7)(q22) g Genotoxic exposure; poor prognosis der(1;7)(q10;p10) Preceded by MDS; poor prognosis; genotoxic exposure i(7)(q10) t(7;11)(p15;p15) b,d HOXA9 (7p15) Class 1 homeobox Auer rods NUP98 (11p15) Nucleoporin t(7;11)(p13;p15) t(7;12)(q21;q13) t(7;21)(q31;q22) +8e Preceded by MDS; 2° assoc. with der(1;7), t(6;9), t(9;11), t(9;22), t(15;17), inv(16); sole change in older patients; leukemia cutis; intermediate prognosis 388 Rizwan Naeem
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 16:
History of Clinical Cytogenetics 1
Page 19 and 20:
4 Steven Gersen The hypotonic solut
Page 21 and 22:
6 Steven Gersen marrow aspiration,
Page 23 and 24:
8 Steven Gersen 9. Hsu, T.C. (1952)
Page 25 and 26:
10 Martha Keagle Fig. 1. DNA struct
Page 27 and 28:
12 Martha Keagle Fig. 3. Transcript
Page 29 and 30:
14 Martha Keagle Fig. 5. Translatio
Page 31 and 32:
16 Martha Keagle Fig. 7. The levels
Page 33 and 34:
18 Martha Keagle single-copy DNA is
Page 35 and 36:
20 Martha Keagle Fig. 10. Mitosis.
Page 37 and 38:
22 Martha Keagle Fig. 11. Schematic
Page 39 and 40:
24 Martha Keagle Fig. 13. Spermatog
Page 42 and 43:
Human Chromosome Nomenclature 27 IN
Page 44 and 45:
Human Chromosome Nomenclature 29 Fi
Page 46 and 47:
Page 48 and 49:
Human Chromosome Nomenclature 33 Ta
Page 50 and 51:
Page 52 and 53:
Page 54 and 55:
Page 56 and 57:
Page 58 and 59:
Page 60 and 61:
Page 62 and 63:
Human Chromosome Nomenclature 47 In
Page 64 and 65:
Human Chromosome Nomenclature 49 Ma
Page 66 and 67:
Human Chromosome Nomenclature 51 Un
Page 68 and 69:
Human Chromosome Nomenclature 53 Ta
Page 70 and 71:
Human Chromosome Nomenclature 55 46
Page 72 and 73:
Human Chromosome Nomenclature 57 nu
Page 74:
Basic Laboratory Procedures 59 II E
Page 78 and 79:
Basic Laboratory Procedures 63 INTR
Page 80 and 81:
Basic Laboratory Procedures 65 amni
Page 82 and 83:
Basic Laboratory Procedures 67 Prep
Page 84 and 85:
Basic Laboratory Procedures 69 Fig.
Page 86 and 87:
Page 88 and 89:
Page 90 and 91:
Page 92 and 93:
Basic Laboratory Procedures 77 Lack
Page 94:
Basic Laboratory Procedures 79 Once
Page 97 and 98:
82 Christopher McAleer Fig. 1. Sche
Page 99 and 100:
84 Christopher McAleer measurements
Page 101 and 102:
86 Christopher McAleer allow light
Page 103 and 104:
88 Christopher McAleer High-dry obj
Page 105 and 106:
90 Christopher McAleer Fig. 3. Sche
Page 108 and 109:
Quality Control and Quality Assuran
Page 110 and 111:
Page 112 and 113:
Page 114 and 115:
Page 116 and 117:
Page 118 and 119:
Page 120 and 121:
Page 122 and 123:
Page 124 and 125:
Page 126 and 127:
Page 128 and 129:
Automation in the Cytogenetics Labo
Page 130 and 131:
Page 132 and 133:
Page 134 and 135:
Page 136 and 137:
Page 138 and 139:
Page 140 and 141:
Page 142 and 143:
Page 144 and 145:
Page 146 and 147:
Autosomal Aneuploidy 131 III Clinic
Page 148 and 149:
Autosomal Aneuploidy 133 INTRODUCTI
Page 150 and 151:
135 Table 1 Parental and Meiotic/Mi
Page 152 and 153:
Autosomal Aneuploidy 137 Fig. 2. Sc
Page 154 and 155:
Autosomal Aneuploidy 139 forming ab
Page 156 and 157:
Autosomal Aneuploidy 141 Fig. 5. Th
Page 158 and 159:
Autosomal Aneuploidy 143 Fig. 6. Pr
Page 160 and 161:
Autosomal Aneuploidy 145 Fig. 8. An
Page 162 and 163:
Autosomal Aneuploidy 147 trisomies,
Page 164 and 165:
Autosomal Aneuploidy 149 21 and ind
Page 166 and 167:
Autosomal Aneuploidy 151 molecular
Page 168 and 169:
Autosomal Aneuploidy 153 Fig. 10. T
Page 170 and 171:
Autosomal Aneuploidy 155 This marke
Page 172 and 173:
Autosomal Aneuploidy 157 47. Hawley
Page 174 and 175:
Autosomal Aneuploidy 159 110. Lindo
Page 176 and 177:
Autosomal Aneuploidy 161 171. Moghe
Page 178 and 179:
Autosomal Aneuploidy 163 231. Reese
Page 180 and 181:
Structural Chromosome Rearrangement
Page 182 and 183:
Page 184 and 185:
Page 186 and 187:
Page 188 and 189:
Page 190 and 191:
Page 192 and 193:
177 Prader-Willi Paternal deletion
Page 194 and 195:
179 Table 2 Some Recurring Duplicat
Page 196 and 197:
Page 198 and 199:
Page 200 and 201:
Page 202 and 203:
Page 204 and 205:
Page 206 and 207:
Page 208 and 209:
Page 210 and 211:
Page 212 and 213:
Page 214 and 215:
Page 216 and 217:
Page 218 and 219:
Page 220 and 221:
Page 222 and 223:
Sex Chromosomes and Sex Chromosome
Page 224 and 225:
Page 226 and 227:
Page 228 and 229:
Page 230 and 231:
Page 232 and 233:
Page 234 and 235:
Page 236 and 237:
Page 238 and 239:
Page 240 and 241:
Page 242 and 243:
Page 244 and 245:
Page 246 and 247:
Page 248 and 249:
Page 250 and 251:
Page 252 and 253:
Page 254 and 255:
Page 256 and 257:
Page 258 and 259:
Page 260 and 261:
Page 262 and 263:
Cytogenetics of Infertility 247 INT
Page 264 and 265:
Cytogenetics of Infertility 249 Amo
Page 266 and 267:
Cytogenetics of Infertility 251 Tab
Page 268 and 269:
Cytogenetics of Infertility 253 gen
Page 270 and 271:
255 Primary ciliary dyskinesia Auto
Page 272 and 273:
Cytogenetics of Infertility 257 cha
Page 274 and 275:
Cytogenetics of Infertility 259 Tab
Page 276 and 277:
Cytogenetics of Infertility 261 Fig
Page 278 and 279:
Cytogenetics of Infertility 263 rat
Page 280:
Cytogenetics of Infertility 265 39.
Page 283 and 284:
268 Linda Marie Randolph By 1986, m
Page 285 and 286:
270 Linda Marie Randolph Table 1 Ch
Page 287 and 288:
272 Linda Marie Randolph Table 4 Th
Page 289 and 290:
274 Linda Marie Randolph Table 6 Fr
Page 291 and 292:
276 Linda Marie Randolph rate of 14
Page 293 and 294:
278 Table 8 Outcome in Early (11-14
Page 295 and 296:
280 Linda Marie Randolph Table 9 Vo
Page 297 and 298:
282 Linda Marie Randolph In 1995, O
Page 299 and 300:
284 Linda Marie Randolph Fig. 1. Il
Page 301 and 302:
286 Linda Marie Randolph reported c
Page 303 and 304:
288 Linda Marie Randolph The underl
Page 305 and 306:
290 Linda Marie Randolph Fig. 3. Ul
Page 307 and 308:
Page 309 and 310:
Page 311 and 312:
296 Linda Marie Randolph Fig. 6. De
Page 313 and 314:
298 Linda Marie Randolph Choroid Pl
Page 315 and 316:
300 Linda Marie Randolph Table 13 C
Page 317 and 318:
302 Linda Marie Randolph Table 14 U
Page 319 and 320:
304 Linda Marie Randolph then that
Page 321 and 322:
306 Table 15 Prenatal Results for R
Page 323 and 324:
308 Linda Marie Randolph Table 17 O
Page 325 and 326:
310 Linda Marie Randolph DNA marker
Page 327 and 328:
312 Linda Marie Randolph XX and XY
Page 329 and 330:
314 Linda Marie Randolph 54. Simpso
Page 331 and 332:
316 Linda Marie Randolph 116. Wang,
Page 333 and 334:
318 Linda Marie Randolph 173. Cicer
Page 335 and 336:
320 Linda Marie Randolph 232. Benn,
Page 338 and 339:
Cytogenetics of Spontaneous Abortio
Page 340 and 341:
Page 342 and 343:
Page 344 and 345:
Page 346 and 347:
Page 348 and 349:
Page 350 and 351:
Page 352 and 353: Cytogenetics of Spontaneous Abortio
Page 360: Cytogenetics of Spontaneous Abortio
Page 363 and 364: 348 Xiao-Xiang Zhang Fig. 1. An exa
Page 365 and 366: 350 Xiao-Xiang Zhang cases availabl
Page 367 and 368: 352 Xiao-Xiang Zhang Fig. 2. Metaph
Page 369 and 370: 354 Xiao-Xiang Zhang patients, grea
Page 371 and 372: 356 Xiao-Xiang Zhang Fig. 5. G-Band
Page 373 and 374: 358 Xiao-Xiang Zhang Fig. 7. Sister
Page 375 and 376: 360 Xiao-Xiang Zhang REFERENCES 1.
Page 378 and 379: Cytogenetics of Hematologic Neoplas
Page 404 and 405: 389 del(8)(q22) t(8;16)(p11.2;p13)
Page 406 and 407: 391 +17 -17 2° assoc. with +21 i(1
Page 436 and 437: Cytogenetics of Solid Tumors 421 IN
Page 438 and 439: 423 Aytpical (see well-differentiat
Page 440 and 441: Cytogenetics of Solid Tumors 425 So
Page 442 and 443: Cytogenetics of Solid Tumors 427 ca
Page 444 and 445: Cytogenetics of Solid Tumors 429 do
Page 446 and 447: Cytogenetics of Solid Tumors 431 cl
Page 448 and 449: Cytogenetics of Solid Tumors 433 Fi
Page 450 and 451: Cytogenetics of Solid Tumors 435 Fi
Page 452 and 453:
Cytogenetics of Solid Tumors 437 Fi
Page 454 and 455:
Cytogenetics of Solid Tumors 439 no
Page 456 and 457:
Cytogenetics of Solid Tumors 441 ch
Page 458 and 459:
Cytogenetics of Solid Tumors 443 Fi
Page 460 and 461:
Cytogenetics of Solid Tumors 445 8.
Page 462 and 463:
Cytogenetics of Solid Tumors 447 64
Page 464 and 465:
Page 466:
Page 469 and 470:
454 Daynna Wolff and Stuart Schwart
Page 471 and 472:
Page 473 and 474:
Page 475 and 476:
Page 477 and 478:
Page 479 and 480:
Page 481 and 482:
Page 483 and 484:
Page 485 and 486:
Page 487 and 488:
Page 489 and 490:
Page 491 and 492:
Page 493 and 494:
Page 495 and 496:
Page 497 and 498:
Page 499 and 500:
Page 501 and 502:
Page 503 and 504:
Page 506:
Fragile X 491 VI Beyond Chromosomes
Page 510 and 511:
Fragile X 495 18 Fragile X From Cyt
Page 512 and 513:
Fragile X 497 Fig. 1. Appearance of
Page 514 and 515:
Fragile X 499 Table 4 Characteristi
Page 516 and 517:
Fragile X 501 (KH domains) and clus
Page 518 and 519:
Fragile X 503 have suggested differ
Page 520 and 521:
Fragile X 505 The premutation form
Page 522 and 523:
Fragile X 507 Table 4). FRAXE expan
Page 524 and 525:
Fragile X 509 35. Heitz, D., Devys,
Page 526 and 527:
Fragile X 511 93. Bennetto, L. and
Page 528:
Fragile X 513 147. Oostra, B.A. and
Page 531 and 532:
516 Jin-Chen Wang Fig. 1. Diagramma
Page 533 and 534:
518 Jin-Chen Wang (50) and IGF2 (pa
Page 535 and 536:
520 Jin-Chen Wang 3. Imprinting cer
Page 537 and 538:
522 Jin-Chen Wang UNIPARENTAL DISOM
Page 539 and 540:
524 Jin-Chen Wang Fig. 3. A diagram
Page 541 and 542:
526 Jin-Chen Wang cause SRS (183).
Page 543 and 544:
528 Jin-Chen Wang Studies comparing
Page 545 and 546:
530 Jin-Chen Wang upd(21)pat Two ca
Page 547 and 548:
532 Jin-Chen Wang 25. Ledbetter, D.
Page 549 and 550:
534 Jin-Chen Wang 84. Bürger, J.,
Page 551 and 552:
536 Jin-Chen Wang 138. Dryja, T.P.,
Page 553 and 554:
538 Jin-Chen Wang 192. Karanjawala,
Page 555 and 556:
540 Jin-Chen Wang 248. Creau-Goldbe
Page 557 and 558:
542 Sarah Hutchings Clark condition
Page 559 and 560:
544 Sarah Hutchings Clark the couns
Page 561 and 562:
546 Sarah Hutchings Clark the coupl
Page 563 and 564:
548 Sarah Hutchings Clark chromosom
Page 565 and 566:
550 Sarah Hutchings Clark SMITH-MAG
Page 567 and 568:
552 Sarah Hutchings Clark often at
Page 569 and 570:
554 Sarah Hutchings Clark The relat
Page 571 and 572:
556 Sarah Hutchings Clark Although,
Page 573 and 574:
558 Sarah Hutchings Clark 33. Nicol
Page 575 and 576:
560 Index Abnormalities, order of,
Page 577 and 578:
562 Index Anus, imperforate, 310 AP
Page 579 and 580:
564 Index CDK4, 394 CDK6, 396 CDKN2
Page 581 and 582:
566 Index mosaicism, in amniotic fl
Page 583 and 584:
568 Index Cutaneous anaplastic larg
Page 585 and 586:
570 Index proximal 15q, 178, t179 p
Page 587 and 588:
572 Index Folic acid pathway, 75 Fo
Page 589 and 590:
574 Index Hereditary neuropathy wit
Page 591 and 592:
576 Index Intrachromosomal recombin
Page 593 and 594:
578 Index Male-specific region, Y c
Page 595 and 596:
580 Index MTX, 76 Mucosa-associated
Page 597 and 598:
582 Index Octamer, 14 Okazaki fragm
Page 599 and 600:
584 Index Premature separation of s
Page 601 and 602:
586 Index Recombinant chromosomes n
Page 603 and 604:
588 Index Sézary syndrome (SS), t3
Page 605 and 606:
590 Index t(4;14), 475 t(5;10), 375
Page 607 and 608:
592 Index Treacher Collins syndrome
Page 609 and 610:
594 Index Xq deletions, 225 Y trans
Page 611 and 612:
596 Index XX males, 467, f468 and a
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?