The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Fragile X 507 Table 4). FRAXE expansion can decrease or increase in both males and females, and two deletions have been identified (148). No point mutations within FMR2 have been reported. The phenotype of FRAXE syndrome appears to be mild MR (IQ = 60–80); however, the collection of cognitive and behavioral data from FRAXE families could further define this phenotype from that of FRAXA (149,150). A knockout mouse model for FMR2 exhibiting impaired learning and memory might also help to further define the mild phenotype of FRAXE observed in humans (151). Preliminary work suggests that FMR2’s gene product acts as a transcription activator (152), but its function in relation to the phenotype remains largely unknown. FRAXE expansions are not common in human populations (approximately 1 in 23,500 individuals) (119), and, although available, DNA analysis for the FRAXE expansion in not widely utilized. INDICATIONS FOR PRENATAL DIAGNOSIS AND CARRIER TESTING Carrier Testing Women who have affected children are obligate carriers. Determining DNA status for these women is indicated if future pregnancies are planned. Other family members who could share an X chromosome with an obligate carrier are at risk and should be referred for counseling and possible testing. Carrier testing could be elected by any individual whether he or she has a positive family history or not, especially because the frequency of premutation carriers in human populations appears to be high. Family members whose carrier status was determined by DNA linkage should be tested to confirm the result. Likewise, DNA testing is recommended for low-expressing family members who were diagnosed cytogenetically. Prenatal Diagnosis Prenatal DNA testing is indicated in families in which the mother is a known carrier of a premutation/full mutation CGG repeat. This is the only situation in which the offspring is at risk to inherit a full mutation. Specimens from either amniocentesis or CVS can be used to determine the allele size of the fetus. Timing and availability are issues that help determine the procedure selected. CVS is done early in pregnancy and, if sufficient tissue is obtained, testing can be performed on uncultured cells. In CVS tissue, full mutations are not always methylated, but interpretation must be based on the size of the allele, not its methylation pattern. Maternal cell contamination, if present, can be seen by fetal to maternal comparison. This is most evident when using double digests and the CVS specimen is not methylated (153). Interpretation of results of testing is usually unremarkable, except in the case of full mutation females. The severity of the disorder cannot be predicted in an individual female, but it is based on the risk probabilities developed in family studies of such females. Genetic Counseling Genetic counseling is a vital part of a multi-disciplinary approach to helping families adjust to and cope with the stresses of fragile X syndrome and its impact on the family. [See the excellent review by Gane and Cronister (154).] Genetic counseling covers a multitude of areas such as diagnosis, prognosis, recurrence risks, family planning options, management, psychosocial issues, to name a few. It provides the family with educational and emotional support so they can adjust to and cope with present as well as future circumstances. General gsenetic counseling is covered in Chapter 20. REFERENCES 1. Dekaban, A. (1965) Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. J. Nucl. Med. 6, 740–746. 2. Sutherland, G.R. (1977) Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 197, 265–266.
508 Dana Crawford and Patricia Howard-Peebles 3. Sutherland, G.R. (1979) Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am. J. Hum. Genet. 31, 125–135. 4. Sutherland, G.R. (1991) Chromosomal fragile sites. Genet. Anal. Tech. Appl. 8, 161–166. 5. Sutherland, G.R. and Hecht, F. (1985) Fragile Sites on Human Chromosomes. Oxford Monographs on Medical Genetics, No. 13. Oxford University Press, New York, NY. 6. Howard-Peebles, P.N. (1991) Letter to the editor. Fragile X expression: use of a double induction system. Am. J. Med. Genet. 38, 445–446. 7. Sutherland, G.R., Baker, E., and Fratini, A. (1985) Excess thymidine induces folate sensitive fragile sites. Am. J. Med. Genet. 22, 433–443. 8. Knutsen, T., Bixenman, H.A., Lawce, H., and Martin, P.K. (The Association of Cytogenetic Technologists Task Force). (1990) Chromosome analysis guidelines—preliminary report. Cytogenet. Cell Genet. 44, 1–4. 9. Jacky, P.B., Ahuja, Y.R., Anyane-Yeboa, K., et al. (1991) Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. Am. J. Med. Genet. 38, 400–403. 10. Penrose, L.S. (1938) A Clinical and Genetic Study of 1,280 Cases of Mental Defect. Special Report Series No. 229. Medical Research Council, London. 11. Howard-Peebles, P.N. (1982) Non-specific X-linked mental retardation: background, types, diagnosis and prevalence. J. Ment. Defic. Res. 26, 205–213. 12. Lubs, H.A. (1969) A marker X chromosome. Am. J. Hum. Genet. 21, 231–244. 13. Lubs, H., Chiurazzi, P., Arena, J., Schwartz, C., Tranebjaerg, L., and Neri, G. (1999) XLMR genes: update 1998. Am. J. Med. Genet. 83, 237–247. 14. Hamel, B.C.J., Chiurazzi, P., and Lubs, H.A. (2000) Syndromic XLMR genes (MRXS): update 2000. Am. J. Med. Genet. 94, 361–363. 15. Martin, J.P. and Bell, J. (1943) A pedigree of mental defect showing sex-linkage. J. Neurol. Psychiatry 6, 154–157. 16. Sherman, S.L., Morton, N.E., Jacobs, P.A., and Turner, G. (1984) The marker (X) syndrome: a cytogenetic and genetic analysis. Ann. Hum. Genet. 48, 21–37. 17. Sherman, S.L., Jacobs, P.A., Morton, N.E., et al. (1985) Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69, 289–299, Erratum: Hum. Genet. 71, 184–186. 18. Steinbach, P., Barbi, G., and Boller, T. (1982) On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression. Hum. Genet. 61, 160–162. 19. Howard-Peebles, P.N. (1983) Conditions affecting fragile X chromosome structure in vitro. In Cytogenetics of the Mammalian X Chromosome, Part B: X Chromosome Anomalies and Their Clinical Manifestations (Sandberg, A.A., ed.), Alan R. Liss, New York, NY, pp. 431–443. 20. Sutherland, G.R. and Baker, E. (1990) The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X. Clin. Genet. 37, 167–172. 21. Sutherland, G.R. and Baker, E. (1992) Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Mol. Genet. 1, 111–113. 22. Hirst, M.C., Barnicoat, A., Flynn, G., et al. (1993) The identification of a third fragile site, FRAXF, in Xq27–q28 distal to both FRAXA and FRAXE. Hum. Mol. Genet. 2, 197–200. 23. Mitelman, F. (ed.) (1995) ISCN(1995): An International System for Human Cytogenetic Nomenclature. Karger, Basel. 24. Hook, E.B. (1977) Exclusion of chromosomal mosaicism: table of 90%, 95% and 99% confidence limits and comments on use. Am. J. Hum. Genet. 29, 94–97. 25. Brown, W.T., Jenkins, E., Neri, G., et al. (1991) Conference report: fourth international workshop on the fragile X and X-linked mental retardation. Am. J. Med. Genet. 38, 158–172. 26. Oberlé, I., Rousseau, F., Heitz, D., et al. (1991) Instability of a 550-base-pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097–1102. 27. Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905–914. 28. Yu, S., Pritchard, M., Kremer, E., et al. (1991) Fragile X genotype characterized by an unstable region of DNA. Science 252, 1179–1181. 29. Cummings, C.J. and Zoghbi, H.Y. (2000) Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 9, 909–916. 30. Bowater, R.P. and Wells, R.D. (2001) The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders. Prog. Nucleic Acid Res. Mol. Biol. 66, 159–202. 31. Ashley, C.T., Jr. and Warren, S.T. (1995) Trinucleotide repeat expansion and human disease. Annu. Rev. Genet. 29, 703–728. 32. Howard-Peebles, P.N. (1997) Fragile sites and trinucleotide repeats. Appl. Cytogenet. 23, 1–6. 33. Fu, Y.-H., Kuhl, D.P.A., Pizzuti, A., et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047–1058. 34. Yu, S., Mulley, J., Loesch, D., et al. (1992) Fragile-X syndrome: unique genetics of the heritable unstable element. Am. J. Hum. Genet. 50, 968–980.
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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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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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Page 506: Fragile X 491 VI Beyond Chromosomes
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Page 531 and 532: 516 Jin-Chen Wang Fig. 1. Diagramma
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Page 551 and 552: 536 Jin-Chen Wang 138. Dryja, T.P.,
Page 553 and 554: 538 Jin-Chen Wang 192. Karanjawala,
Page 555 and 556: 540 Jin-Chen Wang 248. Creau-Goldbe
Page 557 and 558: 542 Sarah Hutchings Clark condition
Page 559 and 560: 544 Sarah Hutchings Clark the couns
Page 561 and 562: 546 Sarah Hutchings Clark the coupl
Page 563 and 564: 548 Sarah Hutchings Clark chromosom
Page 565 and 566: 550 Sarah Hutchings Clark SMITH-MAG
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Page 569 and 570: 554 Sarah Hutchings Clark The relat
Page 571 and 572: 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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