The Principles of Clinical Cytogenetics - Extra Materials - Springer

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DNA, Chromosomes, and Cell Division 21 Metaphase During metaphase, the mitotic spindle is completed, the centrioles divide and move to opposite poles, and chromosomes line up on the equatorial plate. Chromosomes reach their maximum state of contraction during this phase. It is metaphase chromosomes that are traditionally studied in cytogenetics. Anaphase Centromeres divide longitudinally and the chromatids separate during this stage. Sister chromatids migrate to opposite poles as anaphase progresses. Telophase The final stage of the mitosis is telophase. The chromosomes uncoil and become indistinguishable again, the nucleoli reform, and the nuclear membrane is reconstructed. Telophase is usually followed by cytokinesis, or cytoplasmic division. Barring errors in DNA synthesis or cell division, the products of mitosis are two genetically identical daughter cells, each of which contains the complete set of genetic material that was present in the parent cell. The two daughter cells enter interphase and the cycle is repeated. MEIOSIS Meiosis takes place only in the ovaries and testes. A process involving one duplication of the DNA and two cell divisions (meiosis I and meiosis II) reduces the number of chromosomes from the diploid number (2n = 46) to the haploid number (n = 23). Each gamete produced contains only one copy of each chromosome. Fertilization restores the diploid number in the zygote. Meiosis I Meiosis I is comprised of several substages: prophase I, metaphase I, anaphase I, and telophase I (see Fig. 11). Prophase I Prophase I is a complex stage that is further subdivided as follows. LEPTOTENE In leptotene, there are 46 chromosomes, each comprised of two chromatids. The chromosomes begin to condense but are not yet visible by light microscopy. Once leptotene takes place, the cell is committed to meiosis. ZYGOTENE Zygotene follows leptotene. Homologous chromosomes, which in zygotene appear as long threadlike structures, pair locus for locus. This pairing is called synapsis. A tripartite structure, the synaptonemal complex, can be seen with electron microscopy. The synaptonemal complex is necessary for the phenomenon of crossing-over that will take place later in prophase I. Synapsis of the X and Y chromosomes in males occurs only at the pseudoautosomal regions. These regions are located at the distal short arms and are the only segments of the X and Y chromosomes containing homologous loci. The nonhomologous portions of these chromosomes condense to form the sex vesicle. PACHYTENE Synapsis is complete during pachytene. Chromosomes continue to condense and now appear as thicker threads. The paired homologs form structures called bivalents, sometimes referred to as tetrads because they are composed of four chromatids. The phenomenon of crossing-over takes place during pachytene. Homologous or like segments of DNA are exchanged between nonsister chromatids of the bivalents. The result of crossing-over is a
22 Martha Keagle Fig. 11. Schematic representation of two chromosome pairs undergoing meiosis I: (a) prophase I, (b) metaphase I, (c) anaphase I, (d) telophase I, and (e) products of meiosis I. reshuffling or recombination of genetic material between homologs, creating new combinations of genes in the daughter cells. DIPLOTENE In diplotene, chromosomes continue to shorten and thicken and the homologous chromosomes begin to repel each other. Repelling continues until the homologous chromosomes are held together only at points where crossing-over took place. These points are referred to as chiasmata. In males, the sex vesicle disappears and the X and Y chromosomes associate end to end. DIAKINESIS Chromosomes reach their greatest contraction during this last stage of prophase. Metaphase I Metaphase I is characterized by disappearance of the nuclear membrane and formation of the meiotic spindle. The bivalents line up on the equatorial plate with their centromeres randomly oriented toward opposite poles.
Page 1 and 2: The Principles of Clinical Cytogene
Page 4 and 5: The Principles of Clinical Cytogene
Page 6 and 7: v Preface In the summer of 1989, on
Page 8 and 9: vii Preface to First Edition The st
Page 10 and 11: ix Contents Preface ...............
Page 12: Contributors SARAH HUTCHINGS CLARK,
Page 16: History of Clinical Cytogenetics 1
Page 19 and 20: 4 Steven Gersen The hypotonic solut
Page 21 and 22: 6 Steven Gersen marrow aspiration,
Page 23 and 24: 8 Steven Gersen 9. Hsu, T.C. (1952)
Page 25 and 26: 10 Martha Keagle Fig. 1. DNA struct
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Page 33 and 34: 18 Martha Keagle single-copy DNA is
Page 35: 20 Martha Keagle Fig. 10. Mitosis.
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Page 42 and 43: Human Chromosome Nomenclature 27 IN
Page 44 and 45: Human Chromosome Nomenclature 29 Fi
Page 48 and 49: Human Chromosome Nomenclature 33 Ta
Page 62 and 63: Human Chromosome Nomenclature 47 In
Page 64 and 65: Human Chromosome Nomenclature 49 Ma
Page 66 and 67: Human Chromosome Nomenclature 51 Un
Page 68 and 69: Human Chromosome Nomenclature 53 Ta
Page 70 and 71: Human Chromosome Nomenclature 55 46
Page 72 and 73: Human Chromosome Nomenclature 57 nu
Page 74: Basic Laboratory Procedures 59 II E
Page 78 and 79: Basic Laboratory Procedures 63 INTR
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Basic Laboratory Procedures 71 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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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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