The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Cytogenetics of Infertility 265 39. Saxena, R., Brown, L.G., Hawkins, T., et al. (1996) The DAZ gene cluster on the human Y chromosome arose from autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292–299. 40. Cram, D.S., Ma, K., Bhasin, S., et al. (2000) Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of do novo deletions. Fertil. Steril. 74, 909–915. 41. Levron, J., Aviram-Goldring, A., Madgar, I., Raviv, G., Barkai, G., and Dor, J. (2000) Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter’s syndrome. Fertil. Steril. 74, 925–929. 42. Giltay, J.C., van Golde, R.J., and Kastrop, P.M. (2000) Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescent in situ hybridization. J. Assist. Reprod. Genet. 17, 151–155. 43. Viville, S., Mollard, R., Bach, M.-L., Falquet, C., Gerlinger, P., and Warter, S. (2000) Do morphological anomalies reflect chromosomal aneuploidies? Hum. Reprod. 15, 2563–2566. 44. Bonduelle M., van Assche, E., Joris, H., et al. (2002) Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1585 karyotypes and relation to sperm parameters. Hum. Reprod. 17, 2600–2614. 45. Palermo, G.D., Colombero, L.T., Schattman, G.L., Davis, O.K., and Rosenwaks, Z. (1996) Evolution of pregnancies and initial follow-up of newborns delivered after intracytoplasmic sperm injection. JAMA 276, 1893–1897. 46. Simpson, J.L. and Lamb, D.J. (2001) Genetic effects of intracytoplasmic sperm injection. Semin. Reprod. Med. 19, 239–249. 47. Bonduelle, M., Legein, J., Buysse, A., et al. (1996) Prospective follow-up study of 423 children born after intracytoplasmic sperm injection. Hum. Reprod. 11, 1558–1564. 48. Kurinczuk, J.J. and Bower, C. (1997) Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation. Br. Med. J. 315, 1260–1266. 49. Gicquel, C., Gaston, V., Mandelbaum, J., Siffroi, J.-P., Flahault, A., and Le Bouc, Y. (2003) In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. Am. J. Hum. Genet. 72, 1338–1341. 50. Marchington, D.R., Scott-Brown, M.S., Lamb, V.K., et al. (2002) No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI. Mol. Hum. Reprod. 11, 1046–1049. 51. Houshmand, M., Holme, E., Hanson, C., Wennerholm, U.B., and Hamberger, L. (1997) Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection? J. Assist. Reprod. Genet. 14, 223–227.
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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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Page 230 and 231: Sex Chromosomes and Sex Chromosome
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Page 264 and 265: Cytogenetics of Infertility 249 Amo
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Page 270 and 271: 255 Primary ciliary dyskinesia Auto
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Page 288 and 289: 273 Table 5 Frequencies of Chromoso
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Page 292 and 293: Prenatal Cytogenetics 277 centesis
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Page 298 and 299: Prenatal Cytogenetics 283 statistic
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Page 302 and 303: Prenatal Cytogenetics 287 fetuses.
Page 304 and 305: Prenatal Cytogenetics 289 Fig. 2. R
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Page 310 and 311: Prenatal Cytogenetics 295 21 fetuse
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Prenatal Cytogenetics 315 85. Mastr
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Prenatal Cytogenetics 317 145. van
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Prenatal Cytogenetics 319 203. Bena
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Prenatal Cytogenetics 321 263. Bui,
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324 Solveig Pflueger Table 1 Intrau
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326 Solveig Pflueger Table 5 Prenat
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328 Solveig Pflueger percentage of
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330 Solveig Pflueger Table 8 Effect
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332 Solveig Pflueger Fig. 2. 45,X s
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334 Solveig Pflueger diploid/triplo
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336 Solveig Pflueger be repressed (
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338 Solveig Pflueger on embryonic d
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340 Solveig Pflueger Table 9 Phenot
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342 Solveig Pflueger 3. Friedman, R
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344 Solveig Pflueger 67. LaVecchia,
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Chromosome Instability 347 INTRODUC
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Chromosome Instability 349 Table 1
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Chromosome Instability 351 dromes.
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Chromosome Instability 353 Fig. 3.
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Chromosome Instability 361 32. Broe
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364 Rizwan Naeem
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366 Rizwan Naeem One important obje
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368 Rizwan Naeem Table 1 Disease Ca
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370 Rizwan Naeem Table 1 (continued
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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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Fragile X 493 Editors’ Foreword t
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496 Dana Crawford and Patricia Howa
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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
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