The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Fundamentals of Microscopy 89 FLUORESCENCE MICROSCOPY Microscopes used for brightfield microscopy can also be equipped for fluorescence microscopy. The additional components for fluorescence microscopy include an epifluorescence lamp housing, a horizontal attachment for the fluorescent light path, fluorescence filters, and fluorescence objective lenses. Essentials of the Fluorescence Microscope Epifluorescence Lamp Housing and Microscope Attachment The housing for the epifluorescent light source is mounted on the rear of many microscopes and is located just above the housing for the brightfield light source. The fluorescence housing is mounted to an epifluorescent microscope attachment, which is used to direct fluorescent light into the microscope and to house the fluorescence filters. Most fluorescent lamp housings include bulb alignment controls and an adjustable collector lens to control the dispersion of the light across the microscope field of view. The epifluorescent microscope attachment also includes a light shutter to block the passage of light into the microscope, a field diaphragm to control the area of illumination, and a means of inserting infrared or neutral density filters. Filters Infrared (IR) filters can be used with electronic cameras to block IR light emitted by the lamp and keep it from from reaching the camera and producing a high background. IR filters can also reduce the overall intensity of the fluorescent light and should therefore be used on an “as-needed” basis. In addition, IR filters should not be used with fluorescent dyes that rely on infared or near-infared wavelengths for excitation. Neutral density (ND) filters allow the intensity of the fluorescent light of all wavelengths to be reduced (attenuated) by a fixed amount. Neutral density filters come in several attenuations and are labeled to indicate the degree of reduction. Neutral density filters are often used with fluorescent preparations that have unusually bright fluorescence intensity or that produce a great deal of fluorescent flare. Neutral density filters can dramatically reduce the intensity of a limited fluorescent light supply and should be used only when necessary. Fluorescence Filters and the Fluorescence Filter Housing The basic principal of fluorescence microscopy involves the excitation of a fluorochrome (fluorescent stain) with one wavelength of light, causing the emission of a second wavelength of light. The wavelength used for excitation will vary for each fluorochrome, but will be of a higher energy (shorter wavelength) than the emission wavelength it produces (e.g., green excitation wavelengths can produce red emission wavelengths). Fluorescent filters include three basic components: the excitation filter, the dichroic mirror, and the emission filter (see Fig. 3). The excitation filter and dichroic mirror work together to produce precise excitation wavelengths and to direct the light down into the objective lens and onto the specimen. The resulting emission wavelengths then travel up through the objective and pass through the mirror and emission filter so that precise wavelengths reach the eyes of the microscopist or camera. Protocols for the various staining techniques will specify the fluorochromes and filters required for their specific use. Viewing Fluorochromes at the Microscope The best fluorescent stain and filter combination for specimens stained with more than one fluorochrome is one in which the color of each fluorochrome contrasts strongly against all other fluorochromes present. Single-emission fluorescence filters limit the wavelengths of light so that only one fluorochrome is visible at a time. Dual- and triple-emission filters allow multiple fluorochromes to be seen at the same time.
90 Christopher McAleer Fig. 3. Schematic of the basic components of a fluorescence microscope: (a) light source, (b) excitation filter, (c) dichroic mirror, and (d) emission or barrier filter. Single-emission filters offer several advantages over dual- or triple-emission filters, including the use of peak excitation wavelengths for particular fluorochromes, resulting in stronger emission intensities. In addition, single-emission filters usually allow a wider band of wavelengths to emit to the eyes or camera, thus increasing the overall intensity of the fluorescent image. Finally, viewing only one fluorochrome at a time allows for the visualization of verylow-intensity fluorescence, without the signal becoming lost in the fluorescence of other fluorochromes. The disadvantage of single-emission filters is that the fluorescence filters must be frequently changed to allow all fluorochromes to be seen when multiple fluorochromes are used simultaneously. Scanning and analysis can be less tedious when dual- or triple-emission filters are used in such situations. Fluorescence Objective Lenses Fluorescence objective lenses are made of fluorite or quartz, not glass. This extends the useful range of the objective into the UV spectrum (a requirement for DAPI microscopy), as UV wavelengths are absorbed by glass. As previously mentioned, many fluorescence lenses are equipped with a correction collar designed to allow use of the objective with materials with a range of refractive properties and that must be adjusted to the thickness of the plating material. Other lenses are equipped with an aperture diaphragm. Although this diaphragm can be adjusted to reduce the intensity of fluorescence and image flare, closing it will result in a significant loss of resolution and is therefore not recommended. A slight adjustment of the collector lens, use of an ND filter, or other controls present on the epifluorescent microscope attachment are better solutions to control image intensity.
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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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Page 54 and 55: Human Chromosome Nomenclature 39 Fi
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
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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
Page 80 and 81: Basic Laboratory Procedures 65 amni
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Page 148 and 149: Autosomal Aneuploidy 133 INTRODUCTI
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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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