The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Autosomal Aneuploidy 155 This marker contains two copies of a small segment of proximal long-arm euchromatin (22q11.2), thus resulting in tetrasomy for 22q11.2. Clinically, these patients usually present with cat-eye syndrome (260–262). Characteristic features include craniofacial anomalies (vertical coloboma of the iris, which gives the syndrome its name, coloboma of the choroid or optic nerve, preauricular skin tags/pits, down-slanting palpebral fissures), and anal atresia with rectovestibular fistula. Cardiac defects are present in more than one-third of cases. Renal malformations include unilateral agenesis, unilateral or bilateral hypoplasia, or dysplasia. Other less frequent findings include microphthalmia, microtia, atresia of the external auditory canal, biliary atresia, and malrotation of the gut. Intelligence is usually low normal to mildly deficient. Other types of supernumerary marker, such as ring chromosomes derived from chromosome 22 resulting in either trisomy or tetrasomy for 22q11.2, can also cause various features of the cat-eye syndrome. The critical region of this syndrome has been shown to lie within a 2.1-Mb DNA segment defined distally by locus D22S57 and containing the ATP6E (the E subunit of vacuolar H-ATPase) gene (263). Clinically definable entities have not been observed for other markers, as each is typically unique. However, this could change as data concerning the composition of marker chromosomes accumulates through the use of FISH and other molecular technologies. ACKNOWLEDGMENTS The author is grateful to Martha Keagle, Leven Chen, and Craig McKee for preparation of the diagrams and to Dr. Linda Randolph for providing patient photographs. Thanks are also given to Jo Ann Rieger for her aid in preparation of the manuscript. REFERENCES 1. Jacobs, P.A., Browne, C., Gregson, N., Joyce, C., and White, H. (1992) Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J. Med. Genet. 29, 103–108. 2. Hassold, T.J. and Takaesu, N. (1989) Analysis of non-disjunction in human trisomic spontaneous abortions. In Molecular and Cytogenetic Studies of Non-Disjunction (Hassold, T.J. and Epstein, C.J., eds.), Alan R. Liss, New York, pp. 115–134. 3. Warburton, D., Byrne, J. and Canki, N. (1991) Chromosome Anomalies and Prenatal Development: An Atlas. Oxford Monographs on Medical Genetics No. 21. Oxford University Press, New York. 4. Jacobs, P.A., Hassold, T.J., Henry, A., Pettay, D., and Takaesu, N. (1987) Trisomy 13 ascertained in a survey of spontaneous abortions. J. Med. Genet. 24, 721–724. 5. Martin, R.H., Ko, E., and Rademaker, A. (1991) Distribution of Aneuploidy in human gametes: comparison between human sperm and oöcytes. Am. J. Med. Genet. 39, 321–331. 6. Guttenbach, M., Schakowski, R., and Schmid, M. (1994) Incidence of chromosome 3,7,10,11,17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization. Hum. Genet. 93, 7–12. 7. Girardet, A., Coignet, L., Andreo, B., Lefort, G., Charlieu, J.P., and Pellestor, F. (1996) Aneuploidy detection in human sperm nuclei using PRINS technique. Am. J. Med. Genet. 64, 488–492. 8. Pellestor, F., Girardet, A., Coignet, L., Andreo, B., and Charlieu, J.P. (1996) Assesment of aneuploidy for chromosomes 8, 9, 13, 16, and 21 in human sperm by using primed in situ labeling technique. Am. J. Hum. Genet. 58, 797–802. 9. Spriggs, E.L., Rademaker, A.W., and Martin, R.H. (1996) Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction. Am. J. Hum. Genet. 58, 356–362. 10. Kuhn, E.M., Sarto, G.E., Bates, B.G., and Therman, E. (1987) Gene-rich chromosome regions and autosomal trisomy. Hum. Genet. 77, 214–220. 11. Hanna, J.S., Shires, P., and Matile, G. (1997) Trisomy 1 in a clinically recognized pregnancy. Am. J. Med. Genet. 68, 98. 12. Dunn, T.M., Grunfeld, L., and Kardon, N.B. (2001) Trisomy 1 in clinically recognized IVF pregnancy. Am. J. Med. Genet. 99, 152–153. 13. Warren, A.C., Chakravarti, A., Wong, C., et al. (1987) Evidence for reduced recombination on the nondisjoined chromosome 21 in Down syndrome. Science 237, 652–654. 14. Sherman, S.L., Takaesu, N., Freeman, S.B., et al. (1991) Trisomy 21: association between reduced recombination and nondisjunction. Am. J. Hum. Genet. 49, 608–620. 15. Antonarakis, S.E., Petersen, M.B., McInnis, M.G., et al. (1992) The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am. J. Hum. Genet. 50, 544–550.
156 Jin-Chen Wang 16. Robinson, W.P., Bernasconi, F., Mutirangura, A., et al. (1993) Nondisjunction of chromosome 15: origin and recombination. Am. J. Hum. Genet. 53, 740–751. 17. Ya-gang, X., Robinson, W.P., Spiegel, R., Binkert, F., Ruefenacht, U., and Schinzel, A.A. (1993) Parental origin of the supernumerary chromosome in trisomy 18. Clin. Genet. 44, 57–61. 18. Mutirangura, A., Greenberg, F., Butler, M.G., et al. (1993) Multiplex PCR of three dinucleotide repeats in the Prader– Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum. Mol. Genet. 2, 143–151. 19. Petersen, M.B., Antonarakis, S.E., Hassold, T.J., et al. (1993) Paternal nondisjunction in trisomy 21: excess of male patients. Hum. Mol. Genet. 2, 1691–1695. 20. Zaragoza, M.V., Jacobs, P.A., James, R.S., Rogan, P., Sherman, S., and Hassold, T. (1994) Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum. Genet. 94, 411–417. 21. Hassold, T., Merrill, M., Adkins, K., Freeman, S., and Sherman, S. (1995) Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am. J. Hum. Genet. 57, 867–874. 22. Fisher, J.M., Harvey, J.F., Morton, N.E., and Jacobs, P.A. (1995) Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am. J. Hum. Genet. 56, 669–675. 23. Zittergruen, M.M., Murray, J.C., Lauer, R.M., Burns, T.L., and Sheffield, V.C. (1995) Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. Circulation 92, 2803–2810. 24. Eggermann, T., Nothen, M.M., Eiben, B., et al. (1996) Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum. Genet. 97, 218–223. 25. Yoon, P.W., Freeman, S.B., Sherman, S.L., et al. (1996) Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosomal error: a population based study. Am. J. Hum. Genet. 58, 628–633. 26. Zaragoza, M.V., Millie, E., Redline, R.W., and Hassold, T.J. (1998) Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? J. Med. Genet. 35, 924–931. 27. Penrose, L. (1933) The relative effects of paternal and maternal age in mongolism. J. Genet. 27, 219–224. 28. Angell, R.R. (1997) First-meiotic-division nondidjunction in human oocytes. Am. J. Hum. Genet. 61, 23–32. 29. Angell, R.R., Xian, J., Keith, J., Ledger, W., and Baird, D.T. (1994) First meiotic division abnormalities in human oöcytes: mechanism of trisomy formation. Cytogenet. Cell Genet. 65, 194–202. 30. Angell, R.R., Xian, J., and Keith, J. (1993) Chromosome anomalies in human oöcytes in relation to age. Hum. Reprod. 8, 1047–1054. 31. Kumar, R.M., and Khuranna, A. (1995) The chromosome complement of human uncleaved oöcytes. J. Obstet. Gynaecol. 21, 601–607. 32. Lim, A.S., Ho, A.T., and Tsakok, M.F. (1995) Chromosomes of oöcytes failing in-vitro fertilization. Hum. Reprod. 10, 2570–2575. 33. Roberts, C.G. and O’Neill, C. (1995) Increase in the rate of diploidy with maternal age in unfertilized in-vitro fertilization oöcytes. Hum. Reprod. 10, 2139–2141. 34. Dailey, T., Dale, B., Cohen, J., and Munne, S. (1996) Association between nondisjunction and maternal age in meiosis- II human oöcytes. Am J. Hum. Genet. 59, 176–184. 35. Sandalinas, M., Márquez, C., and Munné, S. (2002) Spectral karyotyping of fresh, non-inseminated oocytes. Mol. Hum. Reprod. 8, 580–585. 36. Hook, E.B. (1983) Down syndrome rates and relaxed selection at older maternal ages. Am. J. Hum. Genet. 35, 1307–1313. 37. Stein, Z., Stein, W. and Susser, M. (1986) Attrition of trisomies as a screening device: an explanation for the association of trisomy 21 with maternal age. Lancet ii, 944–946. 38. Warburton, D. (1989) The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection? In Molecular and Cytogenetic Studies of Non-Disjunction (Hassold T.J. and Epstein, C.J., eds.), Alan R. Liss, New York, pp. 165–181. 39. Kratzer, P.G., Golbus, M.S., Schonberg, S.A., Heilbron, D.C., and Taylor, R.N. (1992) Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. Am. J. Med. Genet. 44, 657–663. 40. Henderson, S.A. and Edwards, R.G. (1968) Chiasma frequency and maternal age in mammals. Nature 218, 22–28. 41. Cheng, E.Y., Chen, Y.J., and Gartler, S.M. (1995) A cytological evaluation of the production line hypothesis in human oögenesis using chromosome painting. Am J. Hum. Genet. 57, A51. 42. Kline, J., Kinney, A., Reuss, M.L., et al. (2003) Trisomy and the size of the oocyte pool: No connection? Am. J. Hum. Genet. 73(5)(Suppl.), 203. 43. Hassold, T., Sherman, S., and Hunt, P. (2000) Counting cross-overs: characterizing meiotic recombination in mammals. Hum. Mol. Genet. 9, 2409–2419. 44. Sherman, S.L., Petersen, M.B., Freeman, S.B., et al. (1994) Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum. Mol. Genet. 3, 1529–1535. 45. Lamb, N.E., Feingold, E., Savage, A., et al. (1997) Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum. Mol. Genet. 6, 1391–1399. 46. Lamb, N.E., Freeman, S.B., Savage-Austin, A., et al. (1996) Susceptible chiasmata configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nature Genet. 14, 400–405.
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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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Structural Chromosome Rearrangement
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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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