The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Index 587 ribosomal, 13, 18, 74 rRNA, 13, 18 transfer (tRNA), 13, 14 tRNA, 13, 14 RNA binding motif (RBMY), 259 RNA polymerase, 12 Robert syndrome, 354–355, 550 Robertsonian translocations, 50 and azoospermia, t260 and death after amniocentesis, t271 and indication for prenatal diagnosis, 305 and infertility, 256, t258 and oligospermia, 259t balanced vs unbalanced, t306 frequency, 193 homologous, 195–196, in newborns, t270 incidence at amniocentesis, t272 mechanism of formation, 165–168, f166, 194–195 nonhomologous, 167, f170, 194–196, f194 reproductive risks, 195–196 uniparental disomy, 195–196 Robotic harvesters, 113, 114, f114, f115 Rubinstein–Taybi syndrome, t179 S Safety, 111 Sarcoma cytogenetics, t422-423 clear cell sarcoma, 430–431 dermatofibrosarcoma protuberans, f430, 431 desmoplastic small round cell tumor, 431 Ewing’s sarcoma, 427–428, f428 fibrosarcoma, 431–432 gastrointestinal stromal tumor, 433–434, f433 leiomyosarcoma, 436, f437 liposarcoma, 429–430, f432 malignant peripheral nerve sheath tumor, 434 rhabdoid tumor, 435–436 rhabdomyosarcoma, 428–429 synovial sarcoma, 429 Satellite, 33 Satellite stalk, 33 SDHD, 520 Second trimester maternal serum screening, 553, 554 Secondary AML, 383 MDS, 383 Secondary öocyte, 25 Secondary spermatocyte. 24 Semen analysis, 253 Semicolon, 33, 44 Separated signal, 57, 58 Septo-optic dysplasia, t252 Sequence tagged sites (STS), 257 Serum, 65 Sex assignment, 234 Sex chromatin body, 208 Sex chromosome abnormality,467 aneuploidy, 207, 209, 327, 329, 330–333, 341 and age, 221 incidence, 327, 330 monosomy X, 326, 327, 328, 330, 341 nomenclature, 35, 36, 38, 42–43 numerical, 207, 209 origin of extra chromosomes, 219 parent of origin, 329 phenotype, 331 prenatal detection of, 209, 224 SRY, 467, f468 XX male, 467, f468 XXX, 329, 330 XXY, 329, 330 XYY, 330 Sexual differentiation, 207 Sex vesicle, 21, 22 Sex-mismatched bone marrow transplant, 475–476, f476 Sex reversal, 231 46,XY female, 209, 235 46,XX males, 230, 234
588 Index Sézary syndrome (SS), t369, 404 Sherman paradox, 496, 499, 505 SHOX, 210, 225, 228, 229 Shprintzen syndrome (see DiGeorge syndrome) Sideline, 51–53 Sign minus, 33, 34, 53 multiplication, 33, 53 plus, 33, 34, 35, 53 Signal connected, 57 juxtaposed, 57 separated, 57, 58 split, 57 Silver nitrate, 74 Silver–Russell syndrome, 525 SINES, 18 Sister chromatid exchange (SCE), 165, 166, f166, 175, 187, f187, 188, 189, 356–357, 358f Sister chromatids, 15 Sjögren syndrome, 398 Slash, 38, 51 Slide aging, 69 Slide preparation, 69, f69, 98 Slide scanning, 122, f124 Small lymphocytic lymphoma, t368, 395 Smith–Lemli–Opitz syndrome, 235 Smith–Magenis syndrome, 175, t176, t179, 458, 550 Smooth muscle tumors, 436–437 SMZL, t369, 396-397 SNRPN, 458, f465, 517, 518 Society for Haematopathology, 365 Sodium citrate, 0.8%, 68 Soft tissue tumor cytogenetics, t422–423 Software, imaging system, 121 Solid tumor cytogenetics, 421–444, t422–424 bone tumor aberrations, t422–423 brain tumor aberrations, t424 carcinoma aberrations, t424 diagnostic applications, 427 molecular cytogenetics, 425–426 prognostic markers, 427 sarcoma aberrations, t422–423 Solid tumor molecular cytogenetics, 425–426 SOP manual, 93 Specimen accessioning, 96 analysis, 99 collection, 63–64, 94 amniotic fluid, 64 bone marrow, 64 peripheral blood, 63–64 solid tissues, 64 condition, assessment of, 96 culture, 97 handling, 63 amniotic fluid, 64 bone marrow, 64 peripheral blood, 63–64 solid tissues, 64 labeling, 95, 96 rejection, 95 submission, 94 Spermatid, 24, 25 Spermatogenesis, 218 and aneuploidy, 329–330 Spermatogonia, 24 Spermatozoa, 24, 25, 253 S-phase, 207 Spina bifida (see Neural tube defects) Splenic marginal zone lymphoma (SMZL), t369, 396–397 Spontaneous pregnancy loss, 170, f170, 171, 193, t340 and chromosome abnormalities, 269, 270, t273, t274 natural rate of, 275 Square brackets, 37, 48 SRY, 249, 467, f468 and anti-Mullerian hormone, 253 and Sertoli cells, 253 in 45,X, 249 SS, t369, 404 SS18-SSX, 429 SSX1, 476
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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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528 Jin-Chen Wang Studies comparing
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530 Jin-Chen Wang upd(21)pat Two ca
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532 Jin-Chen Wang 25. Ledbetter, D.
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534 Jin-Chen Wang 84. Bürger, J.,
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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 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 and 592: 576 Index Intrachromosomal recombin
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: 586 Index Recombinant chromosomes n
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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