The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 577 Japanese Society of Human Genetics (JSHG), 110 JMML, t368, 376 JSHG, 110 JUNB, 406 Juvenile myelomonocytic leukemia (JMML), t368, 376 Juxtaposed signal, 57 K Kallmann syndrome, t176, 225, t252, t255 Kanamycin, 65 Kartagener syndrome, t255 Karyotype cancer, 51 composite, 52 description, 32 detailed system, 32, 45, 47 interpreting, 52 normal, 29, 32 origin of term, 3 production, 103 short system, 32, 45, 47 KCl, 68 KCNQ1/KCNQ1OT1 (LIT1), 520 Kennedy disease, f254 Ki-1, 405 Kidney tumors (see Renal tumors) Kinetochore apparatus, 16 Kinetochore staining, 73 KIT, 385, 409, 433 Klinefelter syndrome (see also XXY), 551 discovery of chromosomal origin, 4 in pregnancy loss, 329, 330 Köhler illumination, 84 correction collar, 88 slide thickness, 86 ku sequences, 367 L Labeling of specimens, 95, 96 Landmark, 31 Langer–Giedion syndrome, t176 Large cell lymphoma, 394 LCK, 394 LCR, 165–166 Leiomyoma, 436 Leiomyosarcoma, 436, f437 Lejeune, Jérôme, 4, 5f Leptin, t252 Leptotene, 21 Leri–Weill dyschondrosteosis, due to SHOX deletion, 229, 231 Leukemogenesis, 366 Leydig cells, 218, 253 L-glutamine, 65 LHR, t251 Light path, f83 Limb reduction, 280, 281, 282 LINES, 18 Lipoma, 429–430 Liposarcoma, 429–430, f432 LIS1, 458 List of abbreviations, 31, 33, 53 cytogenetic, 33 in situ hybridization, 53 Locus designation, 54 Logbook, 96 LOH, 365, 376, 521 Looped domains, 15 Loss of heterozygosity (LOH), 365, 376, 521 Loss of imprinting , 520, 521 Low copy repeat (LCR), 458 LPS, 65 Luteinizing hormone and female infertility, 247, f248 and male infertility, t254 receptor defect, t254 Lymphadenopathy, 385, 395 Lymphoblastoid cell lines, 77 Lyon hypothesis, 5, 207 Lyon, Mary, 5, 207 M Magnification changer, 88 Mainline, 51, 53
578 Index Male-specific region, Y chromosome, f208, 209 Malignancy choriocarcinoma, 335 gonadoblastoma, 331 Malignant peripheral nerve sheath tumor, 434 MALT lymphoma, t369, 394, 397–398 MALT1, 394 Mantle cell lymphoma (MCL, t369, 394, 395, 399, 475 Marfan syndrome, 307, 544 Marker chromosome, 49, 154–155, 165, 215, 462–464, t464, f465 and azoospermia, t260 and death after amniocentesis, t271 and indication for prenatal diagnosis, 305 and infertility, t258 and oligospermia, t259 classification, 154 incidence at amniocentesis, t272 nomenclature, 49 Mastocytosis, t370, 409 Maternal age, 328, 330, t330, 332, 334, 339 effect of in Klinefelter syndrome, 217 Maternal age, advanced and first-trimester screening, 304 and indications for prenatal diagnosis, 288 and risk for chromosome abnormality, 288, t289 definition of, 288 Maternal age, young, 288, t289 Maternal cell contamination, 311, 312, 507 Maternal cell overgrowth (in cell culture), 328 Maternal origin, 51 Maternal serum alpha-fetoprotein, 146 Maternal serum human chorionic gonadotropin, 146 M-BCR, 370 m-BCR, 370 MCL, 394, 395, 399 MDS, 376–379, t377, t379 Medicare, 95 Meiosis, 21–24, f22 Meiosis, 168, 170, 174, 180–181, 187, 197, 199 chromosome behavior, 165–168, f166, 174–175, 180–183, f181, 184–185, f184, 187, f187, 188, 190, f191, 197–199, f198 errors, 168 malsegregation, 171, 174, 187, 190, 195 meiosis I, 21–23 meiosis II, 23–24 Meiotic non-disjunction, 327, 328–332 Mental retardation (MR) familial, 495, 496 Martin–Bell syndrome, 496 Renpenning syndrome, 496 X-linked, 495, 496 Mesoblastic nephroma, 441 Mesothelioma, 434, f435 MET, 350 Metacentric, 16, f17 Metaphase, 21 Metaphase I, 22 Methotrexate (MTX), 76, 496 MF, 404 M-FISH, 125, f128 Microarray CGH, 126, f129, 367 Microbial inhibitors, 65 Microdeletions, 458, t459 22q11.2 microdeletion and heart defects, 292, 293, t293 and extracardiac defects, t293 Angelman syndrome, 458 DiGeorge syndrome, 459 elastin (ELN) gene, 459 LIS1, 458 Miller–Dieker syndrome, 458 Prader–Willi syndrome, 458, f460 Smith–Magenis syndrome, 458 SNRPN, 458, f465 TUPLE1, 459 UBE3A, 458 velocardiofacial syndrome, 459
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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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524 Jin-Chen Wang Fig. 3. A diagram
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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
Page 559 and 560: 544 Sarah Hutchings Clark the couns
Page 561 and 562: 546 Sarah Hutchings Clark the coupl
Page 563 and 564: 548 Sarah Hutchings Clark chromosom
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 and 590: 574 Index Hereditary neuropathy wit
Page 591: 576 Index Intrachromosomal recombin
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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