The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Fragile X 493 Editors’ Foreword to Section VI The progress that has been made in the clinical analysis of chromosomes in the five decades since Tjio and Levan is impressive. The resolution possible with the light microscope has become so good that to go any further almost requires analysis of the DNA itself. Indeed, given the current interdependency between chromosome analysis and FISH, the distinction between classical cytogenetics and molecular analysis is no longer as discrete as it once was. The same can be said for the actual definition of a chromosome abnormality, given what is now known about imprinting and uniparental disomy. The information provided by the cytogenetics laboratory has become so complex that it often requires the expertise of a specialist who can assist both patient and health care provider with its interpretation. This is the role traditionally played by the genetic counselor. In this section, we explore the continuum that is cytogenetics, molecular genetics, and imprinting/ UPD, as well as the practical utilization of data via genetic counseling. 493
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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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Page 469 and 470: 454 Daynna Wolff and Stuart Schwart
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Page 511 and 512: 496 Dana Crawford and Patricia Howa
Page 530 and 531: Genomic Imprinting and Uniparental
Page 556 and 557: 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
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