The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Structural Chromosome Rearrangements 205 130. Robinson, W.P., Bernasconi, F., Dutly, F., et al. (1996) Molecular studies of translocations and trisomy involving chromosome 13. Am. J. Med. Genet. 61, 158–163. 131. Shaffer, L.G., Jackson-Cook, C.K., Meyer, J.M., Brown, J.A., and Spence, J.E. (1991) A molecular genetic approach to the identification of isochromosomes of chromosome 21. Hum. Genet. 86, 375–382. 132. Berend, S.A., Horwitz, J., McCaskill, C., and Shaffer, L.G. (2000) Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am. J. Hum. Genet. 66, 1787–1793. 133. Berend, S.A., Bejjani, B.A., McCaskill, C., and Shaffer, L.G. (2002) Identification of uniparental disomy in phonotypically abnormal carriers of isochromosomes or Robertsonian translocations. Am. J. Med. Genet. 111, 362–365. 134. Ledbetter, D.H. and Engel, E. (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum. Mol. Genet. 4, 1757–1764. 135. Nicholls, R.D., Knoll, J.H.M., Butler, M.G., Karam, S., and Lalande, M. (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader–Willi syndrome. Nature 342, 281–285. 136. Malcolm, S., Clayton-Smith, J., Nichols, M., et al. (1991) Uniparental paternal disomy in Angelman syndrome. Lancet 337, 694–697. 137. Wang, J.-C. C., Passage, M.B., Yen, P.H., Shapiro, L.J., and Mohandas, T.K., (1991). Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am. J. Hum. Genet. 48, 1069–1074. 138. Papenhausen, P.R., Mueller, O.T., Johnson, V.P., Sutcliff, M., Diamond, T.M., and Kousseff, B.G. (1995) Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. Am. J. Med. Genet. 59, 271–275. 139. Healey, S., Powell, F., Battersby, M. Chenevix-Trench, G., and McGill, J. (1994) Distinct phenotype in maternal uniparental disomy of chromosome 14. Am. J. Med. Genet. 51, 147–149. 140. Temple, I.K., Cockwell, A., Hassold, T., Pettay, D., and Jacobs, P. (1991) Maternal uniparental disomy for chromosome 14. J. Med. Genet. 28, 511–514. 141. Sutton, V.R. and Shaffer, L.G. (2000) A search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am. J. Med. Genet. 93, 381–387. 142. Boue, A. and Gallano, P. (1984). A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diagn. 4, 45–67. 143. Munne, S., Escudero, T., Sandalinas, M., Sable, D., and Cohen, J. (2000) Gamete segregation in female carriers of Robertsonian translocations. Cytogenet. Cell Genet. 90, 303–308. 144. Greenberg, F., Elder, F.B., and Ledbetter, D.H. (1987) Neonatal diagnosis of Prader–Willi syndrome and its implications. Am. J. Med. Genet. 28, 845–856. 145. Rivera, H., Zuffardi, O., and Gargantini, L. (1990) Nonreciprocal and jumping translocations of 15q1–qter in Prader– Willi syndrome. Am. J. Med. Genet. 37, 311–317. 146. Park, V.M., Gustashaw, K.M., and Wathen, T.M. (1992) The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am. J. Hum. Genet. 50, 914–923. 147. Duval, E., van den Enden, A., Vanhaesebrouck, P., and Speleman, F. (1994) Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis. Am. J. Med. Genet. 52, 214–217. 148. von Ballestrem, C.L., Boavida, M.G., Zuther, C., Carreiro, M.H., David, D., and Gal, A. (1996) Jumping translocation in a phenotypically normal female. Clin. Genet. 49, 156–159. 149. Gross, S.J., Tharapel, A.T., Phillips, O.P., Shulman, L.P., Pivnich, E.K., and Park, V.M. (1996) A jumping Robertsonian translocation: a molecular and cytogenetic study. Hum. Genet. 98, 291–296. 150. Jewett, T., Marnane, D., Rao, P.N., and Pettenati, M.J. (1996) Evidence of telomere involvement in a jumping translocation involving chromosome 15 in a mildly affected infant. Am. J. Hum. Genet. 59(4)(Suppl.), A121. 151. Tomkins, D.J. (1981) Unstable familial translocations: a t(11;22)mat inherited as a t(11;15). Am. J. Hum. Genet. 33, 745–751. 152. Farrell, S.A., Winsor, E.J.T., and Markovic, V.D. (1993) Moving satellites and unstable chromosome translocations: clinical and cytogenetic implications. Am. J. Med. Genet. 46, 715–720. 153. Giussani, U., Facchinetti, B., Cassina, G., and Zuffardi, O. (1996) Mitotic recombination among acrocentric chromosomes’ short arms. Ann. Hum. Genet. 60, 91–97. 154. Chudley, A.E., Bauder, F., Ray, M., McAlpine, P.J., Pena, S.D.J., and Hamerton, J.L. (1974). Familial mental retardation in a family with an inherited chromosome rearrangement. J. Med. Genet. 11, 353–363. 155. Madan, K. and Menko, F.H. (1992). Intrachromosomal insertions: a case report and a review. Hum. Genet. 89, 1–9. 156. Van Hemel, J.O. and Eussen, H.J. (2000) Interchromosomal insertions; identification of five cases and a review. Hum. Genet. 107, 415–432. 157. Hoegerman, S.F. (1979). Chromosome 13 Long arm interstitial deletion may result from maternal inverted insertion. Science 205, 1035–1036. 158. Callen, D.F., Woollatt, E., and Sutherland, G.R. (1985). Paracentric inversions in man. Clin. Genet. 27, 87–92. 159. Walker, A.P. and Bocian, M. (1987). Partial Duplication 8q12 → q21.2 in Two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8. Am. J. Med. Genet. 27, 3–22.
206 Kathleen Kaiser-Rogers and Kathleen Rao 160. Meer, B. Wolff, G., and Back, E. (1981) Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations. Hum. Genet. 58(2), 221–225. 161. Pai, G.S., Thomas, G.H., Mahoney, W., and Migeon, B.R. (1980) Complex chromosome rearrangements; report of a new case and literature review. Clin. Genet. 18, 436–444. 162. Gorski, J.L., Kistenmacher, M.L., Punnett, H.H., Zackai, E.H., and Emanuel, B.S. (1988) Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am. J. Med. Genet. 29, 247–261. 163. Daniel, A., Hook, E.B., and Wulf, G. (1989) Risks of unbalanced progeny at amniocentesis to carriers of chromosomal rearrangements. Am. J. Med. Genet. 31, 14–53. 164. Batista, D.A.S., Pai, S., and Stetten, G. (1994) Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am. J. Med Genet. 53, 255–263. 165. Wyandt, H.E. and Tonk, V.S. (2003) Atlas of Human Chromosome Heteromorphisms. Kluwer Academic, Dordrecht. 166. Gardner, R.J.M. and Sutherland G.R. (2004) Chromosome Abnormalities and Genetic Counseling. (Bobrow, M., Epstein, C.J., Hall, J.G., Harper, P.S., Motulsky, A.G., and Scriver, C., eds.), Oxford University Press, New York, pp. 233–246. 167. Howard-Peebles, P.N., Stanley, W.S., and Corfmann, A. (1995) Variant or real? The clinical cytogeneticist’s nightmare. Am. J. Hum. Genet. 57(4)(Suppl.), A116. 168. Mitelman, F. (ed.) (1995) ISCN (1995): An International System for Human Cytogenetic Nomenclature, Karger, Basel. 169. Ballif, B.C., Kashork, C.D., and Shaffer, L.G. (2000) The promise and pitfalls of telomere region-specific probes. Am. J. Hum. Genet. 67, 1356–1359.
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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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Page 180 and 181: Structural Chromosome Rearrangement
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Page 222 and 223: Sex Chromosomes and Sex Chromosome
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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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