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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 31 Fi
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Human Chromosome Nomenclature 33 Ta
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Human Chromosome Nomenclature 35 Fi
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Human Chromosome Nomenclature 37 Fi
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Human Chromosome Nomenclature 39 Fi
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Human Chromosome Nomenclature 41 Fi
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Human Chromosome Nomenclature 43 Fi
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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 71 Fig.
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Basic Laboratory Procedures 73 Fig.
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Basic Laboratory Procedures 75 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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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Quality Control and Quality Assuran
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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Automation in the Cytogenetics Labo
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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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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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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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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Structural Chromosome Rearrangement
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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Sex Chromosomes and Sex Chromosome
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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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- Page 339 and 340: 324 Solveig Pflueger Table 1 Intrau
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- Page 379 and 380: 364 Rizwan Naeem
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372 Rizwan Naeem Cytogenetics plays
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374 Rizwan Naeem Fig. 2. Representa
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376 Rizwan Naeem proliferation and
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378 Rizwan Naeem Refractory Anemia
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380 Rizwan Naeem The WHO classifica
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382 Rizwan Naeem Molecular studies
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384 Rizwan Naeem cytogenetic findin
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386 Rizwan Naeem Fig. 3. Double min
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388 Table 5 (continued) Cytogenetic
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390 Table 5 (continued) Cytogenetic
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392 Rizwan Naeem As lymphocytes dif
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394 Rizwan Naeem Cytogenetic abnorm
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396 Rizwan Naeem involvement, rapid
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398 Rizwan Naeem cleaved cell lymph
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400 Rizwan Naeem Diffuse Large B-Ce
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402 Rizwan Naeem • Other extranod
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404 Rizwan Naeem Mycosis Fungoides
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406 Rizwan Naeem ALK encodes a tyro
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408 Rizwan Naeem have plentiful sli
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410 Rizwan Naeem 4. Nowell, P.C. an
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412 Rizwan Naeem 62. Brunning, R.D.
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414 Rizwan Naeem 116. Dèohner, H.,
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416 Rizwan Naeem 169. Rosenberg, C.
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418 Rizwan Naeem 227. Feller, A.C.,
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420 Rizwan Naeem 279. Longley, B.J.
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422 Table 1 Typical Cytogenetic Abe
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424 Table 2 Typical Cytogenetic Abe
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426 Jonathan Fletcher and more sens
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428 Jonathan Fletcher Fig. 1. Ewing
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430 Jonathan Fletcher Fig. 2. Typic
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432 Jonathan Fletcher Fig. 3. Metap
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434 Jonathan Fletcher malignant GIS
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436 Jonathan Fletcher Fig. 6. Neuro
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438 Jonathan Fletcher clear cell an
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440 Jonathan Fletcher Fig. 8. Karyo
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442 Jonathan Fletcher ERBB2 amplifi
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444 Jonathan Fletcher laboratories.
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446 Jonathan Fletcher 37. de Alava,
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448 Jonathan Fletcher 91. Knezevich
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450 Jonathan Fletcher 148. Crotty,
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fluorescence In Situ Hybridization
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Fragile X 493 Editors’ Foreword t
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496 Dana Crawford and Patricia Howa
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498 Dana Crawford and Patricia Howa
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500 Dana Crawford and Patricia Howa
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502 Dana Crawford and Patricia Howa
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504 Dana Crawford and Patricia Howa
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506 Dana Crawford and Patricia Howa
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508 Dana Crawford and Patricia Howa
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510 Dana Crawford and Patricia Howa
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512 Dana Crawford and Patricia Howa
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genomic Imprinting and Uniparental
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Genetic Counseling 541 INTRODUCTION
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Genetic Counseling 543 Fig. 1. Pedi
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Genetic Counseling 545 autosome, an
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Genetic Counseling 547 Table 1 Risk
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Genetic Counseling 549 Microdeletio
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Genetic Counseling 551 adult a pote
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Genetic Counseling 553 fetal amnioc
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Genetic Counseling 555 As previousl
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Genetic Counseling 557 3. Walker, A
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Index 559 11q23, 468 abnormalities,
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Index 561 Alternate segregation, 19
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Index 563 Biotin-streptavidin, 457
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Index 565 abnormality previous, and
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Index 567 in early amniocentesis, 2
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Index 569 Y chromosome, 231 Denys-D
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Index 571 Familial rearrangements,
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Index 573 G-banding, 70, f71 GCT, 6
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Index 575 specimen stains, 82 wavel
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Index 577 Japanese Society of Human
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Index 579 Williams syndrome, 459 Mi
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Index 581 meiosis II, 134, f138 mei
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Index 583 and intrauterine growth r
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Index 585 PDGFB (PDGFRβ), 372, 373
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Index 587 ribosomal, 13, 18, 74 rRN
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Index 589 SSX2, 476 Staff qualifica
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Index 591 Tetrasomy 18p, 153-154 fa
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Index 593 critical region, 143-144
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Index 595 V Variable expressivity,
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THE PRINCIPLES OF CLINICAL CYTOGENE