The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Cytogenetics of Solid Tumors 421 INTRODUCTION From: The Principles of Clinical Cytogenetics, Second Edition Edited by: S. L. Gersen and M. B. Keagle © Humana Press Inc., Totowa, NJ 421 16 Cytogenetics of Solid Tumors Jonathan A. Fletcher, MD The field of cytogenetics has had a great impact on clinical and basic sciences in hematology and oncology, and both karyotyping and fluorescence in situ hybridization (FISH) assays are of growing relevance in solid tumor oncology. Although most of the cancer cytogenetic work in clinical laboratories is directed to hematological disorders, it is increasingly evident that cytogenetic assays are essential in providing diagnostic or prognostic information for various solid tumors (see Tables 1 and 2). However, several aspects of the cytogenetic approach present unique challenges in solid tumors. Whereas hematological neoplasms can be sampled by minimally invasive methods, such as bone marrow aspiration or, sometimes, even phlebotomy, solid tumors are generally karyotyped using specimens obtained by open biopsy. Therefore, solid-tumor cytogenetic analyses are typically performed at the time of initial diagnosis or when the tumor is rebiopsied at the time of clinical progression, but they are not performed routinely to monitor treatment response in a given patient. In contrast, hematologic cytogenetic analyses are often repeated at regular intervals in a given patient, so as to monitor disease activity. Another difference between hematological and solid-tumor cytogenetics is that solid-tumor karyotypes are often extremely complex, particularly those in highly malignant solid tumors. A single metaphase cell might contain dozens of clonal and nonclonal chromosomal aberrations, and in such tumors, it is impractical to characterize the exact mechanisms of rearrangement responsible for each chromosomal aberration, particularly in the course of a routine clinical analysis. A final difference is that the solid-tumor sample generally must be disaggregated by mechanical and enzymatic methods before the cells are placed in tissue culture. Although solid tumors are less readily accessible to biopsy compared to hematological neoplasms, it is increasingly common to sample solid tumors by fine-needle percutaneous approaches. Needle sampling is often performed under ultrasound or computed tomography (CT) guidance and can involve taking a fine-needle aspirate or needle core biopsy from the tumor. Solid tumor samples obtained by these methods can be karyotyped successfully (1–4), but the small amount of starting material is a constraint in that fewer cultures can be established. FISH analyses, on the other hand, are straightforward in fine-needle specimens (5,6). Since the mid-1980s, various advances in tumor cell culture, including the use of collagenase for cell disaggregation (7), have enabled more routine cytogenetic analysis of solid tumors. Nonrandom chromosomal abnormalities have been described in many varieties of solid tumors, and many of these are diagnostically or prognostically relevant (see Tables 1 and 2). Increasingly, the methods used for these analyses have become standardized between different clinical laboratories, although there remain many variations of the basic methods. Irrespective of the particular methods used, there are many general considerations that influence the success of tumor cytogenetic analyses.
422 Table 1 Typical Cytogenetic Aberrations in Soft Tissue and Bone Tumors Histologic findings Characteristic cytogenetic events Molecular events Frequency Diagnostic utility? Alveolar soft part sarcoma t(X;17)(p11.2;q25) ASPL-TFE3 fusion >90% Yes Aneurysmal bone cyst (extraosseous) 16q22 and 17p13 rearrangements >50% Yes Angiomatoid fibrous histiocytoma t(12;16)(q13;p11.2) FUS-ATF1 fusion Chondromyoxid fibroma Deletion of 6q >75% Yes Chondrosarcoma Skeletal Complex* >75% ? Extraskeletal myxoid t(9;22)(q22;q12) EWS-NR4A3 fusion >75% Yes t(9;17)(q22;q11) TAF2N-NR4A3 fusion 75% Yes Dermatofibrosarcoma protuberans Ring form of chromosomes 17 and 22 COL1A1-PDGFB fusion >75% Yes t(17;22)(q21;q13) COL1A1-PDGFB fusion 10% Yes Endometrial stromal tumor t(7;17)(p15;q21) JAZF1-JJAZ1 30% Yes Ewing’s sarcoma t(11;22)(q24;q12) EWS-FLI1 fusion >80% Yes t(21;22)(q12;q12) EWS-ERG fusion 5–10% Yes t(2;22)(q33;q12) EWS-FEV fusion 25% No KIT mutation >90% Yes Giant cell tumor Telomeric associations >50% ? Hibernoma 11q13 rearrangement >50% Yes Inflammatory myofibroblastic tumor 2p23 rearrangement ALK fusion genes 50% Yes Leiomyoma Uterine t(12;14)(q15;q24) or deletion of 7q HMGIC rearrangement 40% Yes Extrauterine Deletion of 1p ? ? Leiomyosarcoma Deletion of 1p >50% No Lipoblastoma 8q12 rearrangement or polysomy 8 PLAG1 oncogenes >80% Yes Lipoma Typical 12q15 rearrangement HMGIC rearrangement 60% Yes Spindle cell or pleomorphic Deletion of 13q or 16q >75% Yes 422 Jonathan Fletcher
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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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472 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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