The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 585 PDGFB (PDGFRβ), 372, 373, 431 PML, 380, 382, t390, 467 PTEN, 404 RAF1, 406 RARα, 380, 382, t390, 467 RAS, 375, 376 RB1, 372, 395 RBTN2, 394, 402 REL, 406 TCL1A, 402 TCL1B, 402 TEL, 373, t390, 392, 471 TFG, 406 TP53, 372, 379, 396, 399 TPM3, 406 WT1, 385 YES1, 406 Proximal 15q duplication, 178, t179 Proximal 17p duplication, 175, t179 Proximal 22q duplication, 175, t179 Pseudoautosomal region, 21 Pseudoautosomal region (see X or Y chromosome) Pseudodicentric, 179, t179, 185, f186 Pseudodiploid, 392 Pseudohermaphroditism, 236 Pseudomosaicism, 66 and chorionic villus sampling, 279, 307 and early amniocentesis, 279, 307 PTEN, 404 PUBS (see Percutaneous umbilical cord sampling) Pulmonary stenosis, 262 PV, t368, 373 PW71, 517 Pyloric stenosism 262 Q Q-banding, 70, f72 Q-bands, 28, 31 Qualifications of laboratory staff, 109 Quality assurance, 104 Question mark, 33 Quinacrine banding, 70, f72 Quinacrine dihydrochloride, 6, 70 Quinacrine mustard, 6 R RA, t368, t377, 378 Radiation-induced t-AML/t-MDS, 383 Radiomimetic substances, 353 bleomycin, 353 RAEB, t368, t377, 378 RAF1, 406 RARS, t368, t377, 378 RARα, 380, 382, t390, 467 RAS, 375, 376 RB1, 372, 395 R-banding, 71, f73 R-bands, 28, 31 RBTN1, 394 RBTN2, 394, 402 RCMD, t368, t377, 378 Reciprocal translocations, 49, 189–193, f190, t271 and azoospermia, t260 and death after amniocentesis, t271 and indication for prenatal diagnosis, 305 and infertility, 256, t258 and oligospermia, t259 frequency, 189 in newborns, t270 incidence at amniocentesis, t272 mechanism of formation, 165–168, f166, 184, 191–192, 193 recurring t(X:autosome), 170 t(X;Y), 167, 184, 187, 193 t(4;8), 167, 184, 191, 192-193 t(11;22), 167, 191–192, f192 reproductive risks, 168–170, 171, 180–181,183, 184–185, 189, 190–191, 192, 195–196, 197–199, 200 Recombinase, 367
586 Index Recombinant chromosomes nomenclature, 47 Recombination, 165–167, f166, 171, 174, 181–185, f181, f184, 187, f187, 192–194, 196–198, f198 RecQ family, 355, 357 Recurrence risk following pregnancy loss molar pregnancy, 336 monosomy X, 332, 341 normal karyotype, 337, 340 translocation, 337 trisomy, 328, 341 Recurrent abortion, 340–341 Reed, Sheldon, 541 Reed–Sternberg cells, 407–408 Reference laboratories, 111 Refractory anemia (RA), t368, t377, 378 Refractory anemia with excess of blasts (RAEB), t368, t377, 378 Refractory anemia with ringed sideroblasts (RARS), t368, t377, 378 Refractory cytopenia with multilineage dysplasia (RCMD), t368, t377, 378 Rejection criteria (for specimens), 95 REL, 406 Renal pyelectasis and 47,XYY/46,XY, 297 and chromosome abnormalities, 297, t302 and trisomy 21, 297 definition of, 297 incidence of, 297 recurrence of, 297 Renal tumors, 437-441, t2 chromophobe carcinoma, 438 clear cell carcinoma, 438 mesoblastic nephroma, 441 oncocytoma, 440–441 papillary carcinoma, 439, f440 pediatric carcinoma, 439–440 Wilms’ tumor, 441 Repeat sequences, 167 Alu, 165, 167 high copy number, 167 low copy number, 165–166, 174–175, 183, 193 satellite, 165, 167, 186, 188, 194, 199 Repetitive sequence probe alpha satellite (α-satellite) probe, 456–462 beta satellite probe, 456 classical satellite probe, 456 telomere probe, 456 Replication bubble, 10 Replication fork, 10 Reports final, 103, 104 preliminary, 103, 104 Reproductive risks, 168–170, 171, 180–181, 183, 184–185, 189, 190–191, 192, 195–196, 197–199, 200 Requisition form, 95 condition of. 96 Retinitis pigmentosa, 307 Retinoblastoma, 521 Retinoic acid receptor gene, 467 Reverse banding, 71, f73 Reverse FISH, f485, 486 Rh sensitization, 267 Rhabdomyosarcoma, 428–429, 476, 519, 521 FKHR, 476 PAX3, 476 Ribonucleic acid (see RNA) Ring chromosomes, 49, f166, 168, t179, 188–189, f188 instability, 188 interlocking, 188 mechanism of formation, 188–189 nomenclature, 49 population frequency, 188 reproductive risks, 189 syndrome, 189 uniparental disomy, 189 X chromosome, 214 RNA (ribonucleic acid), 11 messenger (mRNA), 12, 14 mRNA, 12, 14 hybrid, 366 processing, 13, f13
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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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518 Jin-Chen Wang (50) and IGF2 (pa
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520 Jin-Chen Wang 3. Imprinting cer
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522 Jin-Chen Wang UNIPARENTAL DISOM
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524 Jin-Chen Wang Fig. 3. A diagram
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526 Jin-Chen Wang cause SRS (183).
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528 Jin-Chen Wang Studies comparing
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530 Jin-Chen Wang upd(21)pat Two ca
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532 Jin-Chen Wang 25. Ledbetter, D.
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Page 553 and 554: 538 Jin-Chen Wang 192. Karanjawala,
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Page 557 and 558: 542 Sarah Hutchings Clark condition
Page 559 and 560: 544 Sarah Hutchings Clark the couns
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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 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: 584 Index Premature separation of s
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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