The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Fluorescence In Situ Hybridization 471 Fig. 10. Detection of the deleted der(9) associated with decreased long-term survival in chronic myelogenous leukemia, using dual-color, dual-fusion BCR/ABL1 probes along with a probe for the argininosuccinate synthetase gene (ASS) on 9q34 (Vysis, Inc.). The ASS probe is labeled with an aqua fluorophore and hybridizes adjacent to ABL1 on 9q. Left: An example of the hybridization pattern seen in a normal cell. Two green BCR signals and two red ABL1/aqua ASS signals represent the two chromosomes 22 and 9, respectively. Center: A positive cell with no deletion of the der(9). The normal chromosomes 9 and 22 appear as in the left, the “Philadelphia” chromosome (Ph) results in a BCR/ABL1 fusion, and the derivative chromosome 9 produces all three signals. Right: A positive cell with a deletion of the der(9). In this case, the deletion is large enough to result in loss of all signals on the der(9). Without the additional probe, it would not be possible to determine which derivative chromosome was deleted. In other cases, loss of the aqua signal only or other signal combinations facilitate the same interpretation. Acute Lymphocytic Leukemia Routine cytogenetic studies for acute lymphocytic leukemia (ALL) often produce suboptimal preparations resulting in decreased abnormality detection rates. Therefore, FISH is a useful and necessary adjunct to routine testing. Many clinical laboratories offer an ALL FISH screening panel assessment that might include probes for t(9;22) (BCR/ABL1), MLL, t(12;21), MYC, and a common ALL-associated deletion in 9p21-22 (52,53). The panel of probes will detect the majority of genetic aberrations associated with ALL, particularly because the screen is also useful for unmasking hidden hyperdiploidy when multiple signals are seen for various probes. Similar to MLL (see above), the MYC gene at 8q24 is involved in several translocations that result in the dysregulation of the gene. A break-apart MYC probe is useful for detecting rearrangements that are often associated with juxtaposition of MYC and immunoglobulin genes on chromosomes 14, 2, and 22 for B-cell ALL or the T-cell receptor genes for T-cell ALL. t(12;21) brings the TEL gene at 12p13 adjacent to the AML1 gene at 21q22. This translocation is present in approximately 30% of childhood pre-B-ALL and 3–4% of adult ALL. t(12;21) cannot be detected by standard cytogenetics unless a more complex rearrangement is present. Therefore, FISH with probes for TEL and AML1 provides a definitive diagnostic assay, as well as a means for treatment monitoring, for this subgroup of patients (see Fig. 9). Any patient diagnosed with pre-B-cell ALL should be studied with this probe set. B-Cell Disorders B-cell disorders have traditionally presented challenges to the cytogenetics laboratory. The mitotic index of the cells in question is usually quite low and the mitogens available to improve this can be expensive, toxic, and frequently marginally effective. The use of appropriately constructed panels of
472 Daynna Wolff and Stuart Schwartz Fig. 11. Four-color FISH (F-FISH) for detection of BCR/ABL1 gene rearrangements. (A) Genomic organization of BCR and ABL1 genes. Colored bars indicate approximate positions of the probes. Shaded lines indicate different breakpoints in BCR and ABL. (B) Appearance of a normal cell using F-FISH. (C) Typical BCR/ ABL1 gene rearrangement detected with F-FISH. (D) Signal pattern produced by a cell with a BCR/ABL1 gene
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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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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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Page 469 and 470: 454 Daynna Wolff and Stuart Schwart
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Page 531 and 532: 516 Jin-Chen Wang Fig. 1. Diagramma
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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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