The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 571 Familial rearrangements, 168–169, 170, f170, 171, 178, 180, 183, 185, 191–193, f192, 195, 196, 199, 200 FANC genes, 351 Fanconi anemia, 5, 350–351, f352, 550 FBS, 65 FDA, 94, 108 Fecundity, 323-324 Femur, short and racial variation, 299 and trisomy 21, 299, t303 Fertilization errors, 334 diandry, 334 digyny, 334 dispermy, 334-336 molar pregnancy, 334–336 FES, 406 Fetal bovine serum (FBS), 65 FGFR1, 375, 406 FHKR-PAX, t422, 428–429 Fiber FISH, 481–482 Fibromatosis, 431 Fibrosarcoma, 431–432 Field diaphragm, f82, 83 Filters interference, 83 brightfield microscopy, 81–83 dichroic mirror, 89 dual or multi-band emission, 89–90 emission, 89 excitation, 89 fluorescent, 89 infra red (IR), 89 neutral density (ND), 89, 90 single emission, 89–90 Filter wheel, motorized, 125, f127 Final reports, 103, 104 First trimester maternal serum screening, 553, 554 FISH (see also hybridization, in situ and fluorescence in situ hybridization), 74 FISH probe labeling, 457 Fixative, 114 FKHR, 476 FL1, 476 Flow cytometry (for products of conception), 338 FLT3, 380, 385 Fluorescence in situ hybridization (FISH), 74, 133, 134, 168, 175, 178, f180, 183, f184, 186, 188, 200, 547, 549, 550, 553 and amniocentesis, 272 and maternal cell contamination, 312 and mosaic trisomy 16, 310 comparative genomic hybridization (CGH), 126, 168, 251, 338–339, 480, f481 duplication, 462, f463 for products of conception, 329–330, 338, 341 instrumentation for, 117, 118, f118, f119 hybridization, 118, 119 pretreatment, 118 marker chromosome, 462–464, t464, f465 methods, 455–458, f456 microdeletion, 458 microduplication, 458 multi-color FISH (M-FISH), 462 preimplantation genetic diagnosis (PGD), 466 prenatal, 464–466, f466, t466 probes, 455–457 subtelomeric abnormalities, 459–462, f461 Fluorescence microscopy, 89–91, f90 FMR1, t251, 498, 500–503 definition of, 500 homologous genes, 500 FMR2, 498, 506–507 FMRP, 500–502, 506 Folate-sensitive fragile sites, 495, t496, 497, t499 Folate-sensitive autosomal rare fragile sites (ARFSs), 350 Folic acid (and neural tube defects), 305
572 Index Folic acid pathway, 75 Follicle stimulating hormone, 247, f248 Follicular lymphoma, t369, 394, 398–399, 475 Food and drug administration (FDA), 94, 108 Four color FISH (F-FISH), 470, f472 FRA7G region, 350 Fragile sites, 47, 165, 167, 347–349, f348, t349, 495, 496, 497 and cancer, 495 expression, conditions for, 496, 497 folate-sensitive, 495, t496, 497, t499 induction systems, 496 nomenclature, 47 on X chromosome, t497 types, 497 Fragile X (fraX) (see also Fragile X syndrome, chromosomes), 497 gene (see FMR1) protein product (see FMRP) expansion, 498–500, 503–505, 507 location, 498 mutation full, 499, 501–507 premutation, 499, 502–507 other deletion, 506 point mutations, 506 nomenclature (cytogenetic), 47, 496 Fragile X syndrome, 545 and advanced maternal grandfather’s age, 307 chromosomes, 497 animal models, 504 carriers female, 502–503, 505 male, 502, 505 obligate, 497, 505–507 diagnosis cytogenetic, f497, 505–506 DNA or molecular, 506 false negative, 498, 505 false positive, 504, 506 genetic counseling, 507 inheritance, 495–496, 505 macroorchidism, 501 mosaicism full/premutation, 499, 502, 504, 506 methylation, 502 penetrance, 496, 505 phenotype behavioral, 501 cognitive, 502 physical, 501 prevalence female, 504 male, 504 prenatal testing development, 498 indication for, 507 reproductive options, 503 transmitting male, 496, 502 FRAXA, 349–350 fragile XE (FRAXE)/syndrome, 349– 350, 497, 498, 499, 506–507 gene (see FMR2) compared to FRAXA, 497, 498, 499, 506–507 phenotype, 507 Franklin, Rosalind, 9 French–American–British (FAB) classification, 365 FSHR, t251 FTZF(SF1), t251 FUdR, 75, 76, 496 Fungicides, 65 G G-11 banding, 73 GALT, t251 Gametogenesis, 167, 196 Gap 1 (G1), 19, f19 Gap 2 (G2), 19, f19 Gap zero (G0), 19 Gastrointestinal stromal tumor, 433–434, f433 G-band, 28, 31
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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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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: 570 Index proximal 15q, 178, t179 p
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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