The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Fluorescence In Situ Hybridization 473 Table 6 Cytogenetic Aberrations in CLL Cytogenetic Gene(s) % cases detected Prognosis aberration involved by FISH a (median survival) b del(13)(q14) Unknown 55–64% Good (133 months) Trisomy 12 Unknown 16–25% Intermediate (114 months) del(6)(q21–q23) Unknown 0–6% Intermediate del(11)(q22.3–q23.1) ATM 15–18% Poor (79 months) del(17)(p13) TP53 7–8% Poor (32 months) a Data from refs. 54 and 55. b Data from ref. 54. FISH probes, which target the common changes seen in these diseases without adding the unnecessary cost of routinely attempting to diagnose rare events, can detect chromosome abnormalities in the majority of patients. Such panels have demonstrated that, as with myeloid disorders, two or more abnormalities are frequently present. CHRONIC LYMPHOCYTIC LEUKEMIA/LYMPHOMA Chronic lymphocytic leukemia/lymphoma (CLL) is a chronic lymphoproliferative disorder, primarily of B-cell origin. As a result of the low mitotic rate of affected cells in CLL, metaphase cytogenetics studies only detect genetic aberrations in approximately 40% of cases. Interphase FISH is a more sensitive assay and FISH has largely replaced conventional cytogenetics for the detection of genetic aberrations in CLL. FISH studies reveal that the most common abnormalities include deletions of 13q14, trisomy 12, deletions of 11q22.3-q23.1, deletions of 17p13, and deletions of 6q21-q23 (see Table 6). These genomic aberrations are important independent predictors of disease progression and survival, thus FISH analysis with a panel of probes for relevant aberrations is recommended for CLL patients (54). A commercially available panel includes probes used to detect deletions of 13q14, 11q22–23, and 17p13 and trisomy for chromosome 12 (see Fig. 12a). Abnormalities of 13q14 are present in approximately 50–60% of CLL patients and this deletion is associated with a good prognosis (54,55). The tumor suppressor gene in 13q14 of importance to CLL has not been identified; however, the relevant gene has been mapped distal to the retinoblastoma gene (RB1) (56). Deletions of the ATM gene at 11q22-23 have been identified in 13–18% of CLL cases assessed by FISH. Loss of ATM is associated with an advanced disease state and relatively rapid rate of disease progression (54,57). Trisomy 12, originally thought to be the most common genetic aberration by routine cytogenetic analysis, is seen in approximately 20% of B-CLL cases studied using FISH. This aberration has been associated with an intermediate prognosis, with some patients presenting with what appears to be advanced stage disease (54). In roughly 10% of B-CLL patients, the TP53 gene at 17p13 is deleted. This abnormality confers the worst prognosis for CLL patients and is associated with decreased survival and increased drug resistance (58). Because it is hypothesized that CLL clones accumulate genetic aberrations as the disease advances, FISH is appropriate for initial and follow-up studies (55). Fig. 11. (continued) rearrangement and a deletion involving the derivative chromosome 9 (arrow). (E) Cell with a BCR/ABL1 gene rearrangement and an additional der(22). Note the definitive identification of the abnormalities present in (D) and (E) as a result of the 4-color strategy. Typical rearrangements or deletions are also readily and unequivocally interpretable using this method. (Courtesy of Dr. Nalla Palanisamy and Cancer Genetics.)
474 Daynna Wolff and Stuart Schwartz Fig. 12. FISH panels for B-cell disorders. (A) Results from a peripheral blood sample from a patient with CLL, hybridized with the Vysis CLL probe panel. Top row: A deletion of chromosome 13q was evident from the presence of two 13q34 control signals (green) and only one signal for the D13S319 probe (red). The ATM probe produced two signals, indicating no deletion. Bottom row: A normal signal pattern for TP53, and both normal and trisomy 12 cells revealed with a chromosome 12 centromere probe. B: A panel of probes hybridized to peripheral blood from a patient with plasma cell myeloma. An MLL break-apart probe produced two fusion signals, indicating no rearrangement involving this gene. An IGH break-apart probe, however, reveals both normal (bottom) and abnormal (top, arrow) cells in which a rearrangement involving IGH was evident by the separation of one red and one green signal. Subsequent analysis with probes for t(11;14)(q13.q32) demonstrated this rearrangement. A deletion of the RB-1 locus on chromosome 13 was also present, as is a deletion of the TP53 locus on 17p.
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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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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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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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