The Principles of Clinical Cytogenetics - Extra Materials - Springer

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ix Contents Preface .....................................................................................................................................v Preface to First Edition ........................................................................................................ vii Contributors........................................................................................................................... xi eBook/PDA Instructions ..................................................................................................... xiii Section I Basic Concepts and Background.......................................... 1 1 History of Clinical Cytogenetics Steven L. Gersen ........................................................................................................... 3 2 DNA, Chromosomes, and Cell Division Martha B. Keagle ......................................................................................................... 9 3 Human Chromosome Nomenclature: An Overview and Definition of Terms Avirachan Tharapel ................................................................................................... 27 Section II Examining and Analyzing Chromosomes........................ 59 Editors’ Foreword Steven L. Gersen and Martha B. Keagle .................................................................. 61 4 Basic Laboratory Procedures Martha B. Keagle and Steven L. Gersen .................................................................. 63 5 The Fundamentals of Microscopy Christopher McAleer .................................................................................................. 81 6 Quality Control and Quality Assurance Michael Watson and Steven L. Gersen ..................................................................... 93 7 Instrumentation in the Cytogenetics Laboratory Steven L. Gersen and Lotte Downey ....................................................................... 113 Section III Clinical Cytogenetics ...................................................... 131 8 Autosomal Aneuploidy Jin-Chen C. Wang .................................................................................................... 133
x Contents 9 Structural Chromosome Rearrangements Kathleen Kaiser-Rogers and Kathleen Rao ............................................................ 165 10 Sex Chromosomes and Sex Chromosome Abnormalities Cynthia M. Powell .................................................................................................... 207 11 Cytogenetics of Infertility Linda Marie Randolph ............................................................................................. 247 12 Prenatal Cytogenetics Linda Marie Randolph ............................................................................................. 267 13 Cytogenetics of Spontaneous Abortion Solveig M. V. Pflueger ............................................................................................. 323 14 Chromosome Instability Xiao-Xiang Zhang .................................................................................................... 347 Section IV Cancer Cytogenetics ....................................................... 363 15 Cytogenetics of Hematologic Neoplasms Rizwan C. Naeem...................................................................................................... 365 16 Cytogenetics of Solid Tumors Jonathan A. Fletcher ............................................................................................... 421 Section V Fluorescence In Situ Hybridization ................................ 453 17 Fluorescence In Situ Hybridization (FISH) Daynna J. Wolff and Stuart Schwartz .................................................................... 455 Section VI Beyond Chromosomes .................................................... 491 Editors’ Foreword Steven L. Gersen and Martha B. Keagle ................................................................ 493 18 Fragile X: From Cytogenetics to Molecular Genetics Dana C. Crawford and Patricia N. Howard-Peebles ............................................. 495 19 Genomic Imprinting and Uniparental Disomy Jin-Chen C. Wang .................................................................................................... 515 20 Genetic Counseling Sarah Hutchings Clark ............................................................................................ 541 Index ................................................................................................................................... 559
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 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,
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Page 35 and 36: 20 Martha Keagle Fig. 10. Mitosis.
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Page 42 and 43: Human Chromosome Nomenclature 27 IN
Page 44 and 45: Human Chromosome Nomenclature 29 Fi
Page 48 and 49: Human Chromosome Nomenclature 33 Ta
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Human Chromosome Nomenclature 45 Fi
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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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534 Jin-Chen Wang 84. Bürger, J.,
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536 Jin-Chen Wang 138. Dryja, T.P.,
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538 Jin-Chen Wang 192. Karanjawala,
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540 Jin-Chen Wang 248. Creau-Goldbe
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542 Sarah Hutchings Clark condition
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544 Sarah Hutchings Clark the couns
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546 Sarah Hutchings Clark the coupl
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548 Sarah Hutchings Clark chromosom
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550 Sarah Hutchings Clark SMITH-MAG
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552 Sarah Hutchings Clark often at
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554 Sarah Hutchings Clark The relat
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556 Sarah Hutchings Clark Although,
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558 Sarah Hutchings Clark 33. Nicol
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560 Index Abnormalities, order of,
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562 Index Anus, imperforate, 310 AP
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564 Index CDK4, 394 CDK6, 396 CDKN2
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566 Index mosaicism, in amniotic fl
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568 Index Cutaneous anaplastic larg
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570 Index proximal 15q, 178, t179 p
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572 Index Folic acid pathway, 75 Fo
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574 Index Hereditary neuropathy wit
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576 Index Intrachromosomal recombin
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578 Index Male-specific region, Y c
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580 Index MTX, 76 Mucosa-associated
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582 Index Octamer, 14 Okazaki fragm
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584 Index Premature separation of s
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586 Index Recombinant chromosomes n
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588 Index Sézary syndrome (SS), t3
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590 Index t(4;14), 475 t(5;10), 375
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592 Index Treacher Collins syndrome
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594 Index Xq deletions, 225 Y trans
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596 Index XX males, 467, f468 and a
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