The Principles of Clinical Cytogenetics - Extra Materials - Springer

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389 del(8)(q22) t(8;16)(p11.2;p13) Mainly infants/children; Erythrophagocytosis; DIC; poor prognosis t(8;21)(q22;q22) b,d ETO (8q22) Zinc finger Auer rods and eosinophilia; older children and adults; granulocytic AML1 (21q22) CBFα, Drosophilia runt homolog sarcomas; intermediate prognosis t(8;22)(p11;q13) +9 –9 del(9)(p21) del(9)(q22) h 2° assoc. with t(8;21); agranular blasts; Auer rods t(9;11)(p22;q23) b AF9 (9p22) Nuclear protein, ENL homology ALL1 (11q23) Drosophilia trithorax homolog t(9;22)(q34;q11.2) b ABL1 (9q34) Tyrosine kinase 2° assoc. with der(22)t(9;22) BCR (22q11.2) Serine kinase +10 ins(10;11)(p11;q23q24) t(10;11)(p11-15;q13-23) b AF10 (p12) Leucine zipper, zinc finger MLL (11q23) Drosophilia trithorax homolog t(10;17)(p13;q12–21) +11 b,c MLL (11q23) Drosophilia trithorax homolog Sole change in older patients; Auer rods del(11)(p11-12p14-15) del(11)(q14-q23) del(11)(q23q25) i(11)(q10) t(11;11)(q23q25) t(11;15)(q23;q14–15) t(11;17)(q23;q21) b MLL (11q23) Drosophilia trithorax homolog AF17 (17q21) Leucine zipper, zinc finger t(11;17)(q23;q21) b PLZF (11q23) Zinc finger Poor prognosis RARA (17q21) Retinoic acid receptor α t(11;17)(q23;q23) t(11;17)(q23;q25) t(11;19)(q23;p13.3) b MLL (11q23) Drosophilia trithorax homolog Mixed myeloid/lymphoid phenotype; mostly in male infants ENL (19p13.3) Transcription factor t(11;19)(q23;p13.1) MLL (11q23) Drosophilia trithorax homolog Cytogenetics of Hematologic Neoplasms 389 (continued)
390 Table 5 (continued) Cytogenetic abnormality Gene(s) involved Protein Clinical characteristics/prognosis ELL (19p13.3) Transcription factor t(11;20)(p15;q11) t(11;22)(q23;q11) +12 del(12)(p12) i 2° assoc. with –7; genotoxic exposure 2° AML; poor prognosis +i(12)(p10) Primarily in males; mediastinal germ cell tumors t(12;13)(p13;q14) t(12;14)(q13;q32) t(12;14)(q24;q32) t(12;17)(q13;p11-12) t(12;19)(q13;q13.3) t(12;22)(p12-13;q11-13) b,d TEL (12p13) ETS-related transcription factor MN1 (22q11) Nuclear protein +13 2° assoc. with t(6;9); seen as a sole abnormality in males; sole change in older patients; undifferentiated/biphenotypic –13 del(13)(q12q14) j i(13)(q10) +14 Sole change in older patients –14 i(14)(q10) +15 t(15;17)(q22;q11–12) b PML (15q21) Zinc finger RARA (17q21) Retinoic acid receptor α Older children or adults; absence of extramedullary leukemia; DIC; Auer rods; good prognosis –16 del(16)(q22) Lymphadenopathy, hepatomegaly der(16)(t(1;16)(q21;p13) k inv(16)(p13q22) b MYH11 (16p13) Smooth muscle myosin heavy chain Lymphadenopathy, hepatomegaly; good prognosis CBFβ (16q22) Heterodimerizes with AML1 t(16;16)(p13;q22) b MYH11 (16p13) Smooth muscle myosin heavy chain Lymphadenopathy, hepatomegaly; good prognosis CBFβ (16q22) Heterodimerizes with AML1 t(16;21)(p11.2;q22) b FUS (16p11.2) RNA-binding protein ERG (21q22) ETS-related transcription factor Lymphadenopathy, hepatomegaly 390 Rizwan Naeem
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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 439 no
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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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