The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Cytogenetics of Solid Tumors 437 Fig. 7. Karyotype of a low-grade leiomyosarcoma. Arrows indicate clonal chromosome rearrangements that were found in all cells analyzed from this tumor. “mar” is an abbreviation for marker, which indicates an abnormal chromosome of uncertain origin. Chromosome rearrangements not designated by arrows (e.g., the bizarre chromosome 7 rearrangements at lower left) were not present consistently and reflect the genetic heterogeneity in this tumor. EPITHELIAL TUMORS Renal Tumors The clinical relevance of chromosome aberrations in renal tumors is in many respects a paradigm for the potential uses of cytogenetics in other types of solid tumors, such as sarcomas (see above). Consequently, these are among the more common solid-tumor types analyzed in clinical cytogenetic laboratories, and the cytogenetic associations in these tumors will be discussed in detail here. Characteristic cytogenetic aberrations have been identified in virtually all types of renal cancer (see Table 2) and include the ubiquitous deletion of chromosome 3 short-arm material in nonpapillary
438 Jonathan Fletcher clear cell and granular carcinomas (132–134) and trisomies of various chromosomes in papillary carcinomas (135). Likewise, most pediatric renal tumors contain characteristic cytogenetic aberrations. Deletion of 11p is a well-known aberration in Wilms tumors, but several other aberrations, including additional copies of chromosome 12, are more frequent and have apparent prognostic relevance (136,137). Another pediatric renal tumor with extremely consistent cytogenetic aberrations is mesoblastic nephroma, in which various chromosomal trisomies are associated with oncogenic fusion of the TEL (ETV6) and NTRK3 genes on chromosomes 12 and 15, respectively (92,93). Renal Carcinomas Cytogenetic analyses have proven extremely useful in the diagnostic evaluation of various histological subtypes of renal cancer, notably renal carcinomas. These differ from carcinomas in most other organs in that they have relatively noncomplex karyotypes and have distinctive cytogenetic profiles that correlate well with the different renal carcinoma histologies. Indeed, the architecture of renal cell carcinomas is quite variable. Most are composed of sheets of cells, having an abundant, clear, cytoplasm, which are arranged in trabecular or tubular patterns. However, a minority of cases are predominantly papillary, and smaller numbers of renal carcinomas (about 5–15% of the total) have granular, sarcomatoid, or chromophobe histologies (138). Both nonpapillary and papillary renal cell carcinomas are associated with distinctive genetic aberrations, and the following discussion addresses the various histologic subtypes separately. Clear Cell and Granular Renal Cell Carcinomas Chromosome 3p deletion is the most frequent cytogenetic aberration in clear cell and granular nonpapillary renal cell carcinomas. This deletion was found in 70–90% of nonpapillary tumors in some series (132,134), and loss of heterozygosity has been confirmed for several regions of 3p in a similar percentage of cases (139). One target of the 3p deletions is the von Hippel–Lindau tumor suppressor gene (VHL), located near the telomeric aspect of 3p (140). Von Hippel–Lindau syndrome results from inheritance of a defective VHL allele, which predisposes to development of bilateral and multifocal renal cell carcinomas. Furthermore, the VHL gene is mutated in at least 50% of sporadic nonpapillary renal cell carcinomas (141,142). Another potential target of the 3p deletions in sporadic renal cell carcinomas is the more centromeric FHIT tumor suppressor locus in band 3p14 (143). This gene is interrupted, and presumably inactivated, by a germline chromosomal translocation that is associated with development of renal cell carcinoma in several kindreds (144). Diagnostic evaluation of 3p deletions is helpful in the distinction between papillary and nonpapillary renal cell carcinomas. More than 80% of clear cell and granular nonpapillary renal cell carcinomas have 3p deletions, whereas fewer than 10% of papillary renal cell carcinomas have such deletions. The various 3p tumor suppressor genes are of potential therapeutic relevance, because most nonpapillary renal cell carcinomas have mutations that inactivate genes in this region. Although deletion of 3p is the most frequent cytogenetic aberration in clear cell and granular nonpapillary renal cell carcinoma, several other nonrandom cytogenetic aberrations participate in the genesis of these tumors. Nonrandom cytogenetic aberrations found in at least 10% of cases include extra copies of 5q, trisomy 7, deletion of 17p, and loss of the Y chromosome (134). The relevance of isolated trisomy 7, or loss of the Y chromosome, has been a matter of contention, because these same aberrations can be demonstrated, at low levels, in non-neoplastic kidney tissues (145–147). Chromophobe Carcinoma Chromophobe carcinomas account for approximately 5% of renal cell carcinomas and are characterized by pale reticular cytoplasm, positive reaction with Hale’s acid iron colloid, and ultrastructural presence of cytoplasmic microvesicles and dysmorphic mitochondria (148). Most chromophobe carcinomas have extremely hypodiploid karyotypes, containing 31–37 chromosomes and typically including monosomies of chromosomes 1, 2, 6, 10, 13, 17, and 21 (149). Some chromophobe carci-
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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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Page 469 and 470: 454 Daynna Wolff and Stuart Schwart
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488 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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536 Jin-Chen Wang 138. Dryja, T.P.,
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538 Jin-Chen Wang 192. Karanjawala,
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540 Jin-Chen Wang 248. Creau-Goldbe
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542 Sarah Hutchings Clark condition
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544 Sarah Hutchings Clark the couns
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546 Sarah Hutchings Clark the coupl
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548 Sarah Hutchings Clark chromosom
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550 Sarah Hutchings Clark SMITH-MAG
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552 Sarah Hutchings Clark often at
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554 Sarah Hutchings Clark The relat
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556 Sarah Hutchings Clark Although,
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558 Sarah Hutchings Clark 33. Nicol
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560 Index Abnormalities, order of,
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562 Index Anus, imperforate, 310 AP
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564 Index CDK4, 394 CDK6, 396 CDKN2
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566 Index mosaicism, in amniotic fl
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568 Index Cutaneous anaplastic larg
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570 Index proximal 15q, 178, t179 p
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572 Index Folic acid pathway, 75 Fo
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574 Index Hereditary neuropathy wit
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576 Index Intrachromosomal recombin
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578 Index Male-specific region, Y c
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580 Index MTX, 76 Mucosa-associated
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582 Index Octamer, 14 Okazaki fragm
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584 Index Premature separation of s
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586 Index Recombinant chromosomes n
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588 Index Sézary syndrome (SS), t3
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590 Index t(4;14), 475 t(5;10), 375
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592 Index Treacher Collins syndrome
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594 Index Xq deletions, 225 Y trans
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596 Index XX males, 467, f468 and a
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