The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 575 specimen stains, 82 wavelength of light, 82 Imaging systems, 119, f121, f123, f124, f126 archival device, 122 camera, 120 FISH, 125, f127 filter wheel, 125, f127 M-FISH, 125 spot counting, 123, 125, f126 metaphase finding, 122, f124 printer, 121 slide scanning, 122, f124 software, 121, f123 Imatinib mesylate, 372 Immersion oil, 85 nonfluorescing, 91 refractive index, 85 Immunoglobulin genes, 394, 395, 397, 398, 400, 407, 408 Immunology and pregnancy failure, 326, 337, 340 alloimmune disorders, 337 antiphospholipid antibodies, 337 autoimmune disease, 337 Immunophenotyping, 366 Imperforate anus, 310 Imprinting (see also Genomic imprinting), 168, 171, 174, 178, 189, 196, 200, 328, 334, 549 and in vitro fertilization or intracytoplasmic sperm injection (ICSI), 263 Inactivated X chromosome, 19 Incontinentia pigmenti type 2, 307, 545 Infection (and pregnancy loss), 326 Infertility, 170–171, f170, 212, 217–218, 221, 228-229, 231, 234 and chromosomal abnormalities, 330–331, 337 causes of, 247, 249 definition of, 247 female, 247 male, 252 Inflammatory myofibroblastic tumor, 432–433 Inguinal hernia, 310 Inhibin A, 553 and quadruple marker screening, 303 and trisomy 21, 301 INI1(SNF5), 436 INK4a, 372 ins(3;3), f371, 383, t387 Insertions, 47–48, 171, 185, 196–199, f197, f198, 200 population frequency, 197 direct, 196–197 inverted, 196–197 interchromosomal, 198–199, 200, f197, f198 meiotic behavior, 198–199, f198 recombinant, 198 reproductive risks, 198–199 intrachromosomal, 185, 197–198 meiotic behavior, 197–198, f198 recombinant, 197–198 reproductive risks, 197–198 nomenclature, 47–48 In situ culture method, 113, 115, 116, 338 In situ hybridization (ish), 53, 455 fluorescence, 53, 455 interphase, 56 metaphase, 54 nuclear, 56 prophase, 54 Integrated screening, 304, 554 Interchange aneuploidy, f191 Interchromosomal insertion, 198–199, 200, f197, f198, meiotic behavior, 198–199, f198 recombinant, 198 reproductive risks, 198–199 Interferon-α, 372 Interleukin-2, 65 International QA/QC Australia, 110 Canada, 109 Europe, 109 Japan, 110 Intersex conditions, 234 Intrachromosomal amplification, 350
576 Index Intrachromosomal recombination, 353 Intrachromosomal insertion, 185, 197–198 meiotic behavior, 197–198, f198 recombinant, 197–198 reproductive risks, 197–198 Intracytoplasmic sperm injection (ICSI) abnormalities, 262 and birth defects, 262 and chromosome abnormalities, 253, 261, 263 and mitochondria, 263 and obstetric outcome, 262 and pregnancy rate, 262 and prenatal diagnosis, 262 and sperm motility, 262 and teratozoospermia, 262 image of, f261 Intrauterine fetal demise (IUFD), t324, 326 Introns, 12 Inversions, 48, 165, 166, 167, 171, 174, 178, 180, f184, 182–185, 193, 197, 199, 548 and azoospermia, t250 and indication for prenatal diagnosis, 305 and infertility, t258 and oligospermia, t259 balanced vs unbalanced, t306 in newborns, t270 in pregnancy loss, 336–337, 339 incidence of in amniocentesis, t272 nomenclature, 48 paracentric, 178, 183–185, 193, 197 acentric recombinant, 184–185, f184 dicentric recombinant, 184–185, f184 meiotic behavior, 184–185, f184 recurring, 174, 183, 184, 193 reproductive risks, 184–185 population frequency, 183 predisposition to other rearrangements, 174, 183, 184,193 pericentric, 165, 178, 180–183, f180, f181, f184, 199 duplication-deficiency chromosomes, f180, f181, 182, f184 meiotic behavior, 180–183 population frequency, 180 recurring, 165, 178, 180, 183 inv(2), 180, f181, 406 inv(8), 180 inv(9), 165, 167, 178, f180, 199 X chromosome, 227, f 227 inv(2), 406 inv(3q), f374, 375, 383, 385, t387 inv(8), 180 inv(9), 165, 167, 178, f180, 199 inv(14q), f374, 394, 401 Inverted duplicated 15, 154, t179, 556 inv(16), f374, 380, 381, 382, 384, t391, 467 Inverted duplications, 175, t179, 184 Inverted insertion, 196–197 In vitro fertilization (IVF), 341 donor egg, 503 PGT (preimplantation testing), 503 Ionizing radiation (IR), 354 ISCN, history of, 27, 28 ish, 50–53 Isochromosomes, 48, 165, 167, 175, t179, 186-187, f186, f187, 195 mechanism of formation, 187, f187 nomenclature, 48 X chromosome, 213, 228 Y chromosome, 232 Isodicentric chromosome, 48 nomenclature, 48 X chromosome, 228 Y chromosome, 232 IUFD, 326 IVF, 341 J Jacobsen syndrome, 167, t176, 349, 499 FRA11B, 349–350 Japan, 110
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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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520 Jin-Chen Wang 3. Imprinting cer
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522 Jin-Chen Wang UNIPARENTAL DISOM
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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,
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Page 557 and 558: 542 Sarah Hutchings Clark condition
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Page 565 and 566: 550 Sarah Hutchings Clark SMITH-MAG
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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 and 586: 570 Index proximal 15q, 178, t179 p
Page 587 and 588: 572 Index Folic acid pathway, 75 Fo
Page 589: 574 Index Hereditary neuropathy wit
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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