The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 583 and intrauterine growth restriction, 284 and mosaic trisomy 10, 286 and mosaic trisomy 8, 286 and trisomy 18, 286 and uniparental disomy, 285 definition of, 283 incidence of in amniocentesis, 284 incidence of in chorionic villus sampling, 284, 285, t285 Plasma cell myeloma, t369, 397, 475 14q32, 475 17p13, f473, 475 del(13)(q14), f470, f473, 475 IGH, f473, 475 TP53, f473, 475 t(11;14), f473, 475 t(14;14), 475 t(4;16), 475 Plasmacytoma, t369, 397 Plus sign, 33, 35, 51 PLZF, 382 PML, 380, 382, t390, 467 PML/RARα, 380, 381, 382 POF (premature ovarian failure), 222–223, 225, 503 Pokeweed, 65 Polar body, 25 Poly(A) tail, 12 Polycystic ovary syndrome, f248 Polycythemia vera (PV), t368, 373 Polysomy X syndromes, 215-219 origin of extra chromosomes, 219 Population doubling, 355 Position effect, 170, 222, 223 Postanalytical testing components, 103 Potacki–Shaffer syndrome, t179 Potassium chloride (KCl), 0.075 M, 68 Prader–Willi syndrome, 175, t179, f180, 196, t255, 458, f460, 518–519, 528, 549 contiguous gene syndrome, 519 diagnosis, 519 etiology, 518 phenotype, 518 Preanalytical testing components, 94 Pregnancy-associated plasma protein-A (PAPP-A), 290, 303 Pregnancy loss, t326 chromosomally normal, 323, 327, 337–338 causes, 329, 337 immunologic factors, 326, 337, 340 lethal mutations, 337–338 molar pregnancy, 334–336 recurrence risk, 329 developmental age, 324–326, 339 incidence, 323–324 infection and, 326, 340 karyotype abnormalities and fetal anomalies, 326, 333, 339–340 and gestational age, 324–327 incidence, 324–328, 339–340 autosomal monosomy, 326, 328 monosomy X, 327, 330–332 mosaicism, 338 triploidy, 334-335 trisomy, 327-330 mechanisms/types of errors, 327–328 fertilization, 327, 334–336 meiosis, 327, 328–332 mitosis, 327, 332–333 structural rearrangements/ translocations, 327, 336–337 translocations, 327, 336, 339 patient concerns, 323, 341 psycho-social aspects, 323 recurrence risk, 328, 336–337, 340–341 Preimplantation cytogenetics, 341 Preimplantation genetic diagnosis (PGD), 466 Preimplantation genetic testing (PGT), 503 Preliminary reports, 103, 104 Premature aging syndrome, 355 Premature centromere separation, 354–355, f356 Premature ovarian failure (POF), 222–223, 225, 503
584 Index Premature separation of sister chromatids, 134, f137, 138 Prenatal diagnosis, following failed pregnancy, 330, 332, 341 Prenatal FISH, 464–466, f466, t466 AneuVysion TM , 465, f466 Prenatal testing (see also Amniocentesis), 168, 169, 183, 188, 190, 195, 196 amniocentesis, 64, 169, 498, 507, 549, 552–553, 556 CVS, 332–333, 498, 507, 549, 552, 553 PUBS, 78, 498, 555 Pretreatment (FISH), 118 Primary oöcyte, 25 Primary spermatocyte, 24 Primed in situ labeling (PRINS), 133, 481, f484 Printer, 121 Probes, 455–457 Prolactin, f248 Prometaphase, 20–21 Prophase, 20 Prophase I, 21–22 Prostate cancer, 442 Protected health information (PHI), 112 Protein A, 65 Protein synthesis, 12–14, f15 Proto-oncogenes, 365 ABL, 366, 372, t389, t390, 469, f471, f472 AF4, 392 ALK, 432–433 AML1 (CBFα), 372, 381, 385, t387, t389, 392 AP12, 398 ATF1, 430–431 ATIC, 406 ATM , 351–353, 402, 473, f474 BCL1(CCND1, PRAD1), 394, 397, 399, 475 BCL2, 394, 399, 400 BCL6, 399, 400, 407, 409 BCR, 366, 372, t389, t390, 392, 469, f471, f472 BIRC3, 394 BLM , 357 CAN, 384, t388 CBFA2, 406 CBFβ, 381, t391, 467-468 CCND1 (BCL1, PRAD1), 394, 397, 399, 475 CDKN2A, 372, 394, 399, 404, t423 CDKN2B, 399, t423 CDKN2C, 399 CDKN2D, t423 CDKNIC (p57 KIP2 ), 520, 521 CEBPA, 385 CHOP, 430 CTSB, 406 DEK, 384, t388 E2A, 392 ERBB2/HER2, 441–442, 477, f478 ETO, 381, 385, 467 ETV6 (TEL), 372, 432 EVL1, 372 EWS, 372, 427–428, 430–431 FES, 406 FGFR1, 406 FHKR, 429 GBY, 209, 213, 231, 232, 235 HER2, 477, f478 HMGIC (HMGA2), 429, 436 HOX11, 402 INK4a (CDKN2A), 372 JUNB, 406 KIT, 385, 409, 433 MALT1, 394, 398 MET , 350 MINK, 372 MLL, 365, 380, 382–383, 384, t387–389, 392, 468, f470, 471 MTCP1, 402 MYC, 385, 394, 400, 408, 471, 475 MYCN, 406, 435 MYH11, 381, t391, 467–468 NPM1, 405 NRAS, 375, 385, 406 NRTK3, 432 PAX, 429 PAX5, 397 PBX1, 392
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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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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
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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: 582 Index Octamer, 14 Okazaki fragm
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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