The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 569 Y chromosome, 231 Denys–Drash syndrome, 236 Deoxyribonucleic acid (see DNA) der(1;7), f371, t378, t388 Derivative chromosome, 33, 47 Dermatofibrosarcoma protuberans, f430, 431 Designation, band, 29, 31 Desmoid tumor, 431 Desmoplastic small round cell tumor, 431 DFFRY, 259 Diabetes mellitus, 307 Diakinesis, 22 Dicentric, 48, 168, 175, 184–185, f184, f186, 187, f187, 188, 194–195 Dicentric recombinant, 184–185, f184 Dictyotene, 25 Diepoxybutane (DEB), 351 Diffuse large B-cell lymphoma (DLBCL), t369, 400, 408–409, 475 DiGeorge syndrome, 149, 167, 175, t176, t179, 459, 549 Digoxygenin–antidigoxygenin, 457 Dimeric inhibin A, 553 and quadruple marker screening, 303 and trisomy 21, 301 Dimethyl sulfoxide (DMSO), 77 Diploid, 28 Diplotene, 22 Direct duplications, 175 Direct insertions, 196–197 Disomy, uniparental, 51 Distamycin A, 74 DLBCL, t369, 400, 408–409 DMSO, 77 DNA (deoxyribonucleic acid), 9–11 alpha-satellite (α-satellite), 18, 72 α-satellite, 18, 72 highly repetitive sequence, 17 microsatellite, 18 middle repetitive sequence, 17, 18 minisatellite, 18 organization, 14–15, f16 repetitive, 18 replication, 10, f11 satellite, 18 single copy, 18 structure, 9–10 synthesis, 10–11 unique sequence, 17 DNA helicase, 355 DNA ligase, 11 DNA methylation, 365 DNA methyltransferase 3B (DNMT3B), 354 DNA polymerase I, 11 DNA primase, 11 DNA testing for fragile X, 506 Dosage compensation, 207 Dosage sensitive sex reversal region (DSS), 226 Double helix, 9 Double minutes, 385, f386 Down syndrome/trisomy 21 (see also trisomy 21), f194, 546, f547, 548, 553, 554 discovery of chromosomal origin, 4 in 45,X pregnancies, 248 Drosophila, 253 Drying chambers, 114, 115, f116, f117 Duchenne muscular dystrophy, 225, 307 Duodenal atresia, 554 dup(15)(q11-q13), 458, f460 dup(17)(p11.2p11.2), 459 dup(22)(q11.2q11.2), 459 Duplications, 165, 166, f166, 167,169, 171, 174–175, 178, f178, t179, f180, f181, 182, f184, 185, 189, 197, 198, 200, 462, f463 direct, 175 inverted, 175, t179, 184 mechanism of formation, 165–167, f166, 170, 175, 178 microduplications, 167, 174, 175, t179 cat-eye syndrome, t179 Charcot–Marie–Tooth type IA (CMT1A), 166, 174 Cornelia de Lange, 175, t179 Beckwith–Wiedemann, 175, t179
570 Index proximal 15q, 178, t179 proximal 17p, 175, t179 proximal 22q, 175, t179 Pallister–Killian, t179 X chromosome, 226 Duplication-deficiency chromosomes, f180, f181, 182, f184 E E2A, 392 Early amniocentesis, 280 and pseudomosaicism, 279 and specimen requirements, 280 club feet in, 277, 279 comparison with chorionic villus sampling, 277, 279, 280 comparison with midtrimester amnio, 277, t278 congenital hip dislocation in, 277 culture failure rate, 277, 279 definition of, 275 risk of, 276, 277, t278 technical challenges, 275 EBV, 400, 403, 404 Echogenic foci, heart and echogenic bowel, 294 and GM1 gangliosidosis, 294 and missed abortion, 294 and nuchal thickening, 295 and trisomy 21, 294 association with chromosome abnormalities, 294 cause of, 294 incidence of, 294 left vs right, 294 Edward’s syndrome, 5 Elastin (ELN) gene, 459 ELN, 459 Endocrine disorders (and pregnancy loss), 326 Endometriosis and chromosomes 1, 7, and 22, 251 and comparative genomic hybridization, 251 and infertility, 251 Epifluorescent lamp housing, 89 Epstein-Barr virus (EBV), 65, 77, 400, 403, 404 Equipment maintenance, 97 ERBB2/HER2, 441–442 Error acceptable limit of, 107 harvesting, 106 human, 106 labeling, 106 postculturing, 106 slide preparation, 106 Erythroblastosis fetalis, 267 Essential thrombocythemia (ET), t368, 373, 375 Estrogen, 247 ET, t368, 373, 375 Ethics policy, 111 ETO, 381, 385, 467 ETV6 (TEL), 372, 432 ETV6-NTRK3, t422, 432 Euchromatin, 18 Europe (QA/QC), 109 European Association for Haematopathology, 365 EVL1, 372 Ewing’s sarcoma, 192, 427–428, f428, 476 EWS, 476 FL1, 476 t(11;22), 476 EWS, 427–428, 430–431, 476 EWS-ATF1, t422, 430–431 EWS-FLI1, t422, 427–428 EWS-WT1, t422, 431 Exogenous sequences, incorporation of, 365 Extrachromosomal recombination, 353 Extranodal NK/T-cell lymphoma, nasal type, t369, 403 Eyepieces, f82, 88 F FAB classification, 365 Failure, culture, 96, 105
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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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Cytogenetics of Infertility 265 39.
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268 Linda Marie Randolph By 1986, m
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270 Linda Marie Randolph Table 1 Ch
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272 Linda Marie Randolph Table 4 Th
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274 Linda Marie Randolph Table 6 Fr
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276 Linda Marie Randolph rate of 14
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278 Table 8 Outcome in Early (11-14
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280 Linda Marie Randolph Table 9 Vo
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282 Linda Marie Randolph In 1995, O
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284 Linda Marie Randolph Fig. 1. Il
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286 Linda Marie Randolph reported c
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288 Linda Marie Randolph The underl
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290 Linda Marie Randolph Fig. 3. Ul
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296 Linda Marie Randolph Fig. 6. De
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298 Linda Marie Randolph Choroid Pl
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300 Linda Marie Randolph Table 13 C
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302 Linda Marie Randolph Table 14 U
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304 Linda Marie Randolph then that
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306 Table 15 Prenatal Results for R
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308 Linda Marie Randolph Table 17 O
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310 Linda Marie Randolph DNA marker
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312 Linda Marie Randolph XX and XY
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314 Linda Marie Randolph 54. Simpso
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316 Linda Marie Randolph 116. Wang,
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318 Linda Marie Randolph 173. Cicer
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320 Linda Marie Randolph 232. Benn,
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Cytogenetics of Spontaneous Abortio
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348 Xiao-Xiang Zhang Fig. 1. An exa
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350 Xiao-Xiang Zhang cases availabl
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352 Xiao-Xiang Zhang Fig. 2. Metaph
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354 Xiao-Xiang Zhang patients, grea
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356 Xiao-Xiang Zhang Fig. 5. G-Band
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358 Xiao-Xiang Zhang Fig. 7. Sister
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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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Page 551 and 552: 536 Jin-Chen Wang 138. Dryja, T.P.,
Page 553 and 554: 538 Jin-Chen Wang 192. Karanjawala,
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Page 557 and 558: 542 Sarah Hutchings Clark condition
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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: 568 Index Cutaneous anaplastic larg
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
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