The Principles of Clinical Cytogenetics - Extra Materials - Springer

More documents

Recommendations

Info

Sex Chromosomes and Sex Chromosome Abnormalities 211 Turner Syndrome Variants Approximately half of all patients with Turner syndrome have a 45,X karyotype. The remainder exhibit mosaicism and other structural abnormalities of the X chromosome. In a study of cytogenetic and cryptic mosaicism in 211 patients with Turner syndrome, Jacobs et al. (45) reported pure 45,X in 46%, 47% had a structurally abnormal sex chromosome (41% with abnormal X and 6% with abnormal Y), and 7% had a 46,XX or 47,XXX cell line. Two patients were found to have cryptic X mosaicism and none had cryptic Y mosaicism. MOSAICISM Fig. 2. A 45,X fetus with large cystic hygroma and hydrops. Mosaicism for 45,X and another cell line is found in the lymphocytes of 15–20% of patients with Turner syndrome. A 46,XX cell line might modify the phenotypic features of the syndrome. As mentioned earlier, in order to explain why 99% of 45,X conceptions terminate in miscarriage, it has been proposed that most surviving 45,X fetuses have some degree of mosaicism. In a study of both lymphocytes and fibroblast cultures in 87 patients with Turner syndrome, mosaicism was found in 66.7% (46). In a patient with several typical features of Turner syndrome but normal lymphocyte chromosome analysis, analysis of another tissue such as skin should be considered (46).
212 Cynthia Powell Fig. 3. Child with Turner syndrome and low posterior hairline and webbed neck (A) and short fourth metacarpals (B). Infant with Turner syndrome and lymphedema of the hand (C) and feet (D). MOSAICISM WITH A Y CHROMOSOME Patients with 45,X/46,XY mosaicism can have external genitalia ranging from normal male to ambiguous to female with features of Turner syndrome. The Y chromosome is often structurally abnormal. One study of 92 prenatally diagnosed cases found that 95% had normal male genitalia. Abnormal genitalia included hypospadias, micropenis, and abnormal scrotum. In those fetuses for which pathologic studies were possible, 27% had abnormal gonadal histology, classified as dysgenetic gonads. The percentage of mosaicism found in amniotic fluid samples was a poor predictor of the phenotype (47). Another study of 42 cases of 45,X/46,XY mosaicism diagnosed prenatally found phenotypically normal male offspring in 90%, with 10% having questionably abnormal phenotypes, including three cases with mixed gonadal dysgenesis (48). In another study, 3 of 27 patients with mosaic 45,X/46,XY diagnosed postnatally had mixed gonadal dysgenesis (a streak gonad on one side and testis on the other) and normal plasma testosterone levels. The streak gonads were removed in these patients, but the testes were not and all three had normal puberty. Mild mental retardation and autism were seen in four and two patients, respectively, in this series, although there might have been biased ascertainment (49). Abnormal gonadal development including gonadal dysgenesis, infertility, low testosterone level, and azoospermia, can occur in patients with 45,X/46,XY and an apparently normal external male phenotype (49). Fertility cannot be evaluated until puberty, but infertility is common. Using fluorescence in situ hybridization (FISH) analysis, Robinson et al. looked at the structure of the Y chromosomes present in fourteen cases of Turner syndrome with at least 1 cell line with an abnormal Y chromosome (50). Ten patients had a pseudodicentric Yp chromosome, two had an isodicentric Yq, one had a pseudodicentric Yq, and one had a derived Y. Results suggested that the majority of Turner syndrome patients with structurally abnormal Y chromosomes contain two copies
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 192 and 193: 177 Prader-Willi Paternal deletion
Page 194 and 195: 179 Table 2 Some Recurring Duplicat
Page 222 and 223: Sex Chromosomes and Sex Chromosome
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:
Page 354 and 355:
Page 356 and 357:
Page 358 and 359:
Page 360:
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 380 and 381:
Page 382 and 383:
Page 384 and 385:
Page 386 and 387:
Page 388 and 389:
Page 390 and 391:
Page 392 and 393:
Page 394 and 395:
Page 396 and 397:
Page 398 and 399:
Page 400 and 401:
Page 402 and 403:
387 Table 5 Association of Recurren
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 408 and 409:
Page 410 and 411:
Page 412 and 413:
Page 414 and 415:
Page 416 and 417:
Page 418 and 419:
Page 420 and 421:
Page 422 and 423:
Page 424 and 425:
Page 426 and 427:
Page 428 and 429:
Page 430 and 431:
Page 432 and 433:
Page 434 and 435:
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:
Page 452 and 453:
Page 454 and 455:
Cytogenetics of Solid Tumors 439 no
Page 456 and 457:
Cytogenetics of Solid Tumors 441 ch
Page 458 and 459:
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

Create successful ePaper yourself

Delete template?

Save as template?