The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 579 Williams syndrome, 459 Microduplications, 167, 174, 175, t179, 458–459, f460 autism, 458, f460 Charcot–Marie–Tooth 1A, 459 dup(17)(p11.2p11.2), 459 dup(15)(q11-q13), 458, f460 dup(22)(q11.2q11.2), 459 Microscope slides, 85–86 Microscopy, 100 Miller–Dieker syndrome, t176, 458, 550 MINK, 372 Minus sign, 33, 34, 35, 53, 54 Miscarriage (see Pregnancy loss) Misdiagnosis, 107 Mitochondria, 263 Mitogens, 65 Mitomycin C (MMC), 351 Mitosis, 19–21, f20, 167, 168, 187, 195, 196 errors, 168, 174, 186 malsegregation, 186, 187 origin of term, 3 Mitotic inhibitor, 68 Mitotic non-disjunction, 327, 332–333 Mitotic stimulants, 65 MLL, 365, 380, 382–383, 384, t387–389, 392, 468, f470, 471 MMC, 351 Molar pregnancy, 334–336 Molecular cytogenetics (see FISH) Monosomy, t176, 176–177, t179, 183, 188-189, 190, f191, 195, 197–198 Monosomy 5, t378, t388 in AML, 383 in RAEB, 378 in RCMD, 378 Monosomy 7, t378, t388 in AML, 380 in B-ALL, 393 in CIMF, 373 in JMML, 376 in RCMD, 378 Monosomy 21, 148–149 Monosomy 22, mosaic, 149 Monosomy 22q13.3, t179 Monosomy, autosomal, 310, 326, 327, 328 low level sex chromosome, 339 Monosomy X, f331, f332 45,X/47,XXX mosaicism, 215 age related, 221 gonadoblastoma, 331 maternal age, 332 miscarriage, 326, 330–332 mosaicism, 331, 332 parent of origin, 210, 331 phenotype, 210, 331 recurrence risk, 332 Mosaicism, 38, 42, 66, 168, t179, 185– 186, 188–189, 196, 327, 331, 332– 333, 548 45, X, 211 45,X/46,XY, 209, 555 45,X/47,XXX, 215 confined placental, 332–333, 552, 555 dynamic, 188, 196 fragile X, 499, 502, 504, 506 gonadal, 168 in CVS, 332–333 in amniotic cell culture, 307, 308, t308, 309, 310, 311, t311 in chorionic villus sampling culture, 307 levels I, II, III, 307, 555 pseudomosaicism, 555 somatic, 168, 188, 196 tissue specific, 327, 331, 332–333 adverse outcomes, 326, 332–333 hCG levels in, 333 post-zygotic non-disjunction, 332–333 trisomy rescue, 333 uniparental disomy, 333 Y chromosome, 212, 213 Mounting media, 85–86 MPD, 367, t368 MPD/MDS, 375 MSY (see also Male-specific region), 217 MTCP1, 402
580 Index MTX, 76 Mucosa-associated lymphoid tissue (MALT) lymphoma, t369, 394, 397–398 Mullerian agenesis, f248 Multicolor banding (m-band), 481, f484 Multicolor FISH (M-FISH), 125, 462, 480, f483 Multifactorial inheritance, 545 Multilineage dysplasia, 383 Multiple gestation, 288 Multiple myeloma (see Plasma cell myeloma) Multiplex FISH, 125 Multiplication sign, 33, 53 Multiradial formation, 351, 352f, 354, 355f Mutations (and pregnancy loss), 337–338 MYC, 385, 394, 400, 408, 471, 475 MYCN, 406, 435, 476, 521 Mycoplasma, 65 Mycosis fungoides (MF), t369, 404 Myelodysplastic syndromes (MDS), t368, 376-379, t377, t379 Myeloid disorder, 145 MYH11, 381, t391, 467–468 Myotonic dystrophy, t255 N NAACLS, 93 Nasal bone, hypoplasia or absence and 45,X, 296 and chromosome abnormalities, 295, t303 and ethnicity, 295 and free human chorionic gonadotropin, 295 and nuchal thickness, 295, 297 and pregnancy-associated plasma protein-A, 295 and trisomy 13, 296 and trisomy 18, 296 and trisomy 21, 295, t303 image of, f296 in chromosomally normal fetuses, 297 National Accrediting Agency for Clinical Laboratory Sciences (NAACLS), 93 National Society of Genetic Counselors (NSGC), 541, 542 Near haploidy, 392 Neocentromere, 186 Neoplasia, 51 choriocarcinoma, 335 gonadoblastoma, 331 NER-deficiency syndrome, 359 Neural tube defects (NTD), 339, 553 and carbamazepine, 305 and chromosome abnormalities, 305 and folic acid, 305 and intracytoplasmic sperm injection (ICSI), 262 and maternal diabetes, 307 and valproic acid, 305 previous, and indication for prenatal diagnosis, 305 Neuroblastoma, 434–435, f436, 476, 521 MYCN, 476 Neurofibromatosis, 167, 307, 376 Neutropenia, 385 Newborns, cytogenetic abnormalities in, 269, t271, 326 Nibrin/NBS1/p95. 354 Nijmegen breakage syndrome, 354 Nitrogenous bases, 9 NLPHL, t369, 406–407 Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL), t369, 406-407 Nomenclature, 27 Nondirectiveness, 542 Nondisjunction aberrant recombination, 136, 137, 138 “entanglement” effect, 138 genetic predisposition, 139 “limited oöcyte pool” model, 136 maternal age, 134, 328, 330, 332 meiosis I, 134, f136
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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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526 Jin-Chen Wang cause SRS (183).
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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 and 590: 574 Index Hereditary neuropathy wit
Page 591 and 592: 576 Index Intrachromosomal recombin
Page 593: 578 Index Male-specific region, Y c
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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