The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Chromosome Instability 349 Table 1 Common and Rare Fragile Sites Common fragile sites Rare fragile sites Mode of induction Mode of induction Aphidicolin inducible 1p36.1 3p14.2 7q22 12q24 Folate sensitive 2q11.2 1p32 3q27 7q31.2 13q13.2 2q13 1p31.2 4p16.1 7q32.3 13q21.2 2q22.3 1p31 4p15.2 7q36 14q23 5q35 1p22 4q31.1 8q22.1 14q24.1 6p23 1p21.2 5p14 8q24.1 15q22 7p11.2 1q21 5q15 8q24.3 16q22.1 8q22.3 1q25.1 5q21 9q22.1 16q23.2 9p21 1q31 5q31.1 9q32 17q23.1 9q32 1q44 6p25.1 10q22.1 18q12.2 10q23.3 2p24.2 6p22.2 10q25.2 18q21.3 11q13.3 2p16.2 6q15 10q26.1 20p12.2 11q23.3 2p13 6q21 11p15.1 22q12.2 12q13.1 2q21.3 6q26 11p14.2 Xp22.31 12q24.13 2q31 7p22 11p13 Xq22.1 16p12.3 2q32.1 7p14.2 11q13 Xq27.2 16p13.11 2q33 7p13 11q14.2 19p13 2q37.3 7q11.2 11q23.3 20p11.23 3p24.2 7q21.2 12q21.3 22q13 Xq27.3 5-azacytidine 1q12 Distamycin A inducible 8q24.1 inducible 1q44 11p15.1 9q12 16q22.1 19q13 17p12 10q25.2 5-Bromodeoxyuridine 4q12 6q13 13q21 BrdU requiring 12q24.2 (BrdU) inducible 5p13 9p21 5q15 10q21 Source: Data from refs. 6 and 7. proposed that delayed DNA replication underlies expression of fragile sites and that cytogenetic manifestation of these fragile sites is the result of incomplete DNA replication, which leads to a failure of chromatin compaction (10). This becomes more obvious when DNA replication is perturbed by aphidicolin or folate induction. Clinical Significance The discovery of the fragile X syndrome (see Chapter 18) has dramatically stimulated the search for other fragile sites that might be associated with abnormal phenotypes. It has frequently been suggested that breakage and recombination at these sites could be mechanistically involved in constitutional rearrangements or the deletions observed in many tumors. The finding of a fragile site during the course of chromosome analysis often raises questions regarding the potential clinical significance and can create uncertainty regarding patient care. Currently, with the exceptions of FRAXA and FRAXE (two well-known causes of familial mental retardation) and possibly FRA11B in relation to the breakpoint associated with Jacobsen syndrome (11), no other rare fragile site has, to date, been shown to predispose to any heritable chromosome abnormality or malignancy. In a study of 10,492
350 Xiao-Xiang Zhang cases available from the literature, no statistical association between fragile sites and constitutional breakpoints was noted (12). The occurrence of folate-sensitive autosomal rare fragile sites (ARFSs) was compared in populations of mentally retarded, mentally subnormal, and mentally normal children, and among the patients studied, the frequencies did not differ significantly (13). On the other hand, compelling evidence has suggested that common fragile sites are highly unstable regions in the human genome, associated with cancer predisposition and progression. The theory that the common fragile site might play a role in tumor development was initially proposed by Yunis and Soreng soon after fragile sites were discovered (14). It has been well recognized that 50–70% of common fragile sites colocalize with oncogenes, tumor suppressor genes, and breakpoints in cancer rearrangements (15). Subsequently, experimental evidence has revealed that fragile sites appear to be preferential targets for viral integration (16). The observation of intrachromosomal amplification of the MET oncogene in a human gastric carcinoma (via a breakage–fusion–bridge within the FRA7G region) further supports the hypothesis that fragile sites play a key role in the amplification of some oncogenes during tumor progression (17,18). More direct evidence was reported by Egeli et al. who noted a significantly higher expression of fra(3)(p14) in squamous cell lung cancer patients and their relatives than those in healthy control subjects (19), and they suggested that the high expression of fra(3)(p14) in these patients and their relatives could be a valid marker for genetic predisposition to lung cancer. However, arguments downplaying the role of common fragile sites in the tumorigenic process have come from the fact that these sites are virtually present in everyone’s genome and, therefore, it would be unreasonable to suggest that any one individual is at a particularly higher risk of developing a malignancy. Because there is no convincing evidence implicating common fragile sites in the cancer process, the following guidelines provided by Sutherland et al. can be used when dealing with patients who express fragile sites: With the definite exceptions of FRAXA and FRAXE and possibly FRA11B, patients with any other fragile site, either rare or common, can be strongly reassured the fragile site will not affect their personal health or increase their risk of having chromosomally abnormal children. (20) CHROMOSOME INSTABILITY SYNDROMES The chromosome instability syndromes, formerly known as chromosome breakage syndromes, comprise a number of rare but distinct clinical entities. The classic chromosome instability syndromes are Fanconi anemia, ataxia telangiectasia, Nijmegen syndrome, ICF syndrome, Robert syndrome, Werner syndrome, and Bloom syndrome. They are all autosomal recessive, show increased frequency of chromosome changes (spontaneous or induced), and, with the exception of Robert syndrome, are all associated with an increased risk of development of malignancies. This higher incidence of neoplasia might also apply to family members of affected individuals. These disorders were initially described as clinical syndromes, independent of their mechanisms of action. However, recent progress in molecular genetics and biochemistry indicates that, despite their clinical characteristics, they essentially constitute disorders of DNA recombination. Although each has its own specific molecular defect related to abnormalities of DNA repair, cell cycle control, or apoptosis, the common result is chromosomal instability leading to a neoplastic phenotype. Fanconi Anemia Fanconi anemia (FA) is a rare disorder characterized by diverse congenital anomalies and a predisposition to bone marrow failure and malignancy. FA patients present with a wide range of clinical heterogeneity and many major organ systems can be affected. Approximately 50% of patients have radial-ray anomalies ranging from bilateral absent thumbs and radii to unilateral hypoplastic thumb or bifid thumb. Malformations of the heart, kidney, and anomalies of the skeleton and limbs show considerable overlaps with some clinical syndromes, such as VATER, TAR, and Holt–Oram syn-
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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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Page 338 and 339: Cytogenetics of Spontaneous Abortio
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Cytogenetics of Hematologic Neoplas
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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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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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