The Principles of Clinical Cytogenetics - Extra Materials - Springer

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391 +17 –17 2° assoc. with +21 i(17)(q10) MDS features; seen in older patients; poor prognosis del(17)(q22) +18 –18 2° assoc. with t(10;11) +19 2° assoc. with t(1;22), t(9;22); seen as sole change in young patients –19 +20 –20 del(20)(q11.2q13) +21 MDS features –21 i(21)(q10) +22 MDS features; 2° assoc. with inv(16) –22 2° assoc. with t(1;22) del(22)(q11-13) –X 2° assoc. with t(8;22) del(X)(q24) idic(X)(q13) Found exclusively in women; seen in older patients t(X;11)(q13;q23) t(X;11)(q24-25;q23) +X 2° assoc. with der(1;17) –Y Age related phenomenon in elderly patients; 2° assoc. with t(8;21) a Gene activation. b Gene fusion. c Partial tandem gene duplication. d Also observed in MDS. e Also interpreted as ins(3;3)(q21;q21q26). f Other breakpoints (between bands 5q11 and 5q35) also reported. g Other breakpoints (between bands 7q11 and 7q36) also reported. h Other breakpoints (between bands 9q11 and 9q34) also reported. i Other breakpoints in 12p11 and 12q13) also reported. j Other breakpoints (between bands 13q11 and 13q34) also reported. k Also observed in ALL, solid tumors. l Also observed in solid tumors. Cytogenetics of Hematologic Neoplasms 391
392 Rizwan Naeem As lymphocytes differentiate and mature, the structural changes they undergo are accompanied by functional changes. The principal change occurring in the maturation of immature lymphoblasts to lymphocytes is the somatic recombination of the immunoglobulin genes. Cytogenetic abnormalities play an important role in diagnosis, as well as in defining the treatment and in evaluating prognosis and risk factors. The cytogenetic abnormalities in precursor B-cell lymphoblastic leukemia/lymphoma fall into several groups as follows: • Hypodiploid • Hyperdiploid with fewer than 50 chromosomes • Hyperdiploid with more than 50 chromosomes • Translocations t(9;22)(q34;q11.2); BCR/ABL1 t(variable;11q23); MLL rearranged t(12;21)(p13;q22); TEL/AML1 t(1;19)(q23;p13.3); PBX/E2A • Pseudodiploid With current treatment protocols, cases that are hyperdiploid with chromosome numbers between 51 and 65 carry a good prognosis. The karyotypes of patients with more than 50 chromosomes have certain features in common, such as extra copies of chromosome X, 4, 6, 10, 14, 17, 18, 20, and 21, duplication of 1q, and i(17q). Gain of chromosome 6 and the combination of trisomies 4 and 10 have been strongly associated with favorable outcomes. About 3% of cases show triploidy; this is more frequent in adult than in childhood ALL. A favorable prognosis is also associated with a (12;21) translocation, which results in the fusion of the TEL gene at 12p13 with the transcription factor encoding gene AML1, at 21q22, resulting in compromised AML1 transcriptional activity. The chimeric fusion gene is associated with superior treatment outcomes, with relapse-free survival seen in about 90% of cases. The prognostic strength of the TEL rearrangement is independent of other factors. Although this is the most common translocation in childhood ALL, FISH or an reverse-transcription–polymerase chain reaction (RT-PCR) assay is required to identify the gene fusion or chimeric transcript, as the translocation is not detectable with standard cytogenetic analysis. Because of the nature of the chromosome bands involved, this translocation was not reported until molecular evidence identified it. In childhood cases, over 50% of patients with hyperdiploid karyotypes or t(12;21) have good prognoses (101–103). Several cytogenetic findings are associated with poor prognoses using current treatment protocols. These include t(9;22), t(4;11), and t(1;19), hypodiploidy, and near-haploidy As described earlier, t(9;22) (see Fig. 1t) results in fusion of the BCR gene at 22q11.2 with ABL1, a cytoplasmic tyrosine kinase gene at 9q34. In ALL, this translocation is more frequently seen in adults and is found in approximately 25% of adult patients. In most childhood cases of ALL a variant t(9;22) fusion protein, p190, is seen. t(4;11) (see Fig. 1l) results in fusion of the MLL gene at 11q23, which encodes a putative DNA-binding protein, and the transcription activator AF4 at 4q21. (ALL with 11q23 abnormalities can also occur as therapy-related leukemia.) t(1;19), found in 25% of childhood B-ALL with cytoplasmic µ expression, fuses the transcription factor produced by E2A at 19p13.3 with PBX1 at 1q23. Most hypodiploid cases have a model number of 45 chromosomes and arise from loss of whole chromosomes, unbalanced translocations, or the formation of dicentric chromosomes. Hypodiploidy with 30–39 chromosomes is seen in about 2% of adult ALL. The main clone in near-haploid cases contains at least one copy of each chromosome, with two sex chromosomes and two copies of chromosome 21 in most cases. In many near-haploid cases, there is a second abnormal cell line with a hyperdiploid karyotype. This hyperdiploid line usually contains exactly two copies of all chromosomes in the near-haploid cell line.
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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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Cytogenetics of Solid Tumors 441 ch
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Cytogenetics of Solid Tumors 443 Fi
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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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