28.02.2013 Views

The Principles of Clinical Cytogenetics - Extra Materials - Springer

The Principles of Clinical Cytogenetics - Extra Materials - Springer

The Principles of Clinical Cytogenetics - Extra Materials - Springer

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

Structural Chromosome Rearrangements 201<br />

15. Chandley, A.C. (1988) Meiotic studies and fertility in human translocation carriers. In <strong>The</strong> <strong>Cytogenetics</strong> <strong>of</strong> Mammalian<br />

Autosomal Rearrangements (Daniel, A., ed.), Alan R. Liss, New York, pp. 361–382.<br />

16. Page, S.L. and Shaffer, L.G. (1997) Nonhomologous Robertsonian translocations form predominantly during female<br />

meiosis. Nature Genet. 15, 231–32<br />

17. Wu,Y-Q., Heilstedt, H.A., Bedell, J.A., and May, K.M. (1999) Molecular refinement <strong>of</strong> the 1p36 deletion syndrome<br />

reveals size diversity and a preponderance <strong>of</strong> maternally derived deletions. Hum. Mol. Genet. 8, 312–321.<br />

18. Floridia, G., Piantanida, M., Minelli, A., et al., (1996) <strong>The</strong> same molecular mechanism at the maternal meiosis I produces<br />

mono- and dicentric 8p duplications. Am. J. Hum. Genet. 58, 785–796.<br />

19. Dutley, F., Balmer, D., Baumer, A., Binkert, F., and Schinzel, A. (1998) Isochromosomes 12p and 9p: parental origin<br />

and possible mechanisms <strong>of</strong> formation. Eur. J. Hum. Genet. 6, 140–144.<br />

20. Eggermann, T., Schubert, R., Engels, H., et al. (1999) Formation <strong>of</strong> supernumerary euchromatic short arm isochromosomes:<br />

parent and cell stage <strong>of</strong> origin in new cases and review <strong>of</strong> the literature. Ann. Genet. 42(2), 75–80.<br />

21. Struthers, J.L., Cuthbert, C.D., and Khalifa, M.M. (1999) Parental origin <strong>of</strong> the isochromosome 12p in Pallister–Killian<br />

syndrome: molecular analysis <strong>of</strong> one patient and review <strong>of</strong> the reported cases. Am. J. Med. Genet. 84, 111–115.<br />

22. Morrow, B., Goldberg, R., Carlson, C., et al. (1995) Molecular definition <strong>of</strong> the 22q11 deletions in velo-cardio-facial<br />

syndrome. Am. J. Hum. Genet. 56, 1391–1403.<br />

23. Perez-Jurado, L.A., Peoples, R., Kaplan, P., Hamel, B.C.J., and Francke, U. (1996) Molecular definition <strong>of</strong> the chromosome<br />

7 deletion in Williams syndrome and parent-<strong>of</strong>-origin effects on growth. Am. J. Hum. Genet. 59, 781–792.<br />

24. Warburton, D. (1982) De novo structural rearrangements: implications for prenatal diagnosis. In <strong>Clinical</strong> Genetics:<br />

Problems in Diagnosis and Counseling (Willey, A.M., Carter, T.P., Kelly, S. and Porter, eds.), Academic Press, New<br />

York, pp. 63–73.<br />

25. Boyd, Y., Cockburn, D., Holt, S, et al. (1988) Mapping <strong>of</strong> 12 translocation breakpoints in the Xp21 region with respect<br />

to the locus for Duchenne muscular dystrophy. Cytogenet. Cell Genet. 48, 28–34.<br />

26. De Braekeleer, M. and Dao T.-N. (1991) Cytogenetic studies in male infertility. Hum. Reprod. 6, 245–250.<br />

27. James, R.S., Temple, I.K., Patch, C., Thompson, E.M., Hassold, T., and Jacobs, P.A. (1994) A systematic search for<br />

uniparental disomy carriers <strong>of</strong> chromosome translocations. Eur. J. Hum. Genet. 2, 83–95.<br />

28. Wagstaff, J. and Hemann, M. (1995) A familial “balanced” 3;9 translocation with cryptic 8q insertion leading to deletion<br />

and duplication <strong>of</strong> 9p23 loci in siblings. Am. J. Hum. Genet. 56, 302–309.<br />

29. Gardner, R.J.M. and Sutherland G.R. (1996) Chromosome Abnormalities and Genetic Counseling (Bobrow, M., Harper,<br />

P.S., Motulsky, A.G., and Scriver, C., eds.), Oxford University Press, New York.<br />

30. Schinzel, A. (ed.) (1984) Catalogue <strong>of</strong> Unbalanced Chromosome Aberrations in Man. Walter de Gruyter, New York.<br />

31. Wilkie, A.O.M., Lamb, J., Harris, P.C., Finney, R.D., and Higgs, D.R. (1990) A truncated human chromosome 16<br />

associated with alpha thalassemia is stabilized by addition <strong>of</strong> telomeric repeat (TTAGGG) n. Nature 346, 868–871.<br />

32. Flint, J., Craddock, C.F. Villegas, A., et al. (1994) Healing <strong>of</strong> broken human chromosomes by the addition <strong>of</strong> telomeric<br />

repeats. Am. J. Hum. Genet. 55(3), 505–512.<br />

33. Varley, H., Di, S., Scherer, S.W., and Royle, N.J. (2000) Characterization <strong>of</strong> terminal deletions at 7q32 and 22q13.3<br />

healed by de novo telomere addition. Am. J. Hum. Genet. 67(3), 610–622.<br />

34. Ballif, B.C., Kahork, C.D., and Shaffer, L.G. (2000) FISHing for mechanisms <strong>of</strong> cytogenetically defined terminal<br />

deletions using chromosome-specific subtelomeric probes. Eur. J. Hum. Genet. 8, 764–770.<br />

35. Meltzer, P.S., Guan, X-Y., and Trent, J.M. (1993) Telomere capture stabilizes chromosome breakage. Nature Genet.<br />

4(3), 252–255.<br />

36. Schwartz, S., Kumar, A., Becker, L.A., et al. (1997) Molecular and cytogenetic analysis <strong>of</strong> de novo “terminal” deletions:<br />

implications for mechanism <strong>of</strong> formation. Am. J. Hum. Genet. 61(Suppl), A7.<br />

37. Helstedt, H.A., Ballif, B.C., Howard, L.A., et al. (2003) Physical map <strong>of</strong> 1p36, placement <strong>of</strong> breakpoints in monosomy<br />

1p36, and clinical characterization <strong>of</strong> the syndrome. Am. J. Hum. Genet. 72, 1200–1212.<br />

38. Schmickel, R.D. (1986) Contiguous gene syndromes: a component <strong>of</strong> recognizable syndromes. J. Pediatr. 109, 231–241.<br />

39. Budarf, M.L. and Emanuel, B.S. (1997) Progress in the autosomal segmental aneusomy syndromes (SASs): single or<br />

multi-locus disorders. Hum. Mol. Genet. 6, 1657–1665.<br />

40. Francke, U. (1999) Williams-Beuren syndrome: genes and mechanisms. Hum. Mol. Genet. 8(10), 1947–1954.<br />

41. Osborne, L.R. (1999) Williams–Beuren syndrome: unraveling the mysteries <strong>of</strong> a microdeletion disorder. Molec. Genet.<br />

Metab. 67, 1–10.<br />

42. Dutly, F. and Schinzel, A. (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing<br />

the Williams-Beuren syndrome. Hum. Mol. Genet. 5, 1893–1898.<br />

43. Urban, Z., Helms, C., Fekete, G., et al. (1996) 7q11.23 deletions in Williams syndrome arise as a consequence <strong>of</strong><br />

unequal meiotic crossover. Am. J. Hum. Genet. 59, 958–962.<br />

44. Peoples, R., Franke, Y., Wang, Y-K., et al. (2000) A physical map, including a BAC/PAC clone contig, <strong>of</strong> the Williams–<br />

Beuren syndrome-deletion region at 7q11.23. Am. J. Hum. Genet. 66, 47–88.<br />

45. Osborne, L.R., Li, M., Pober, B., et al. (2001) A 1.5 million-base pair inversion polymorphism in families with<br />

Williams–Beuren syndrome. Nature Genet. 29, 321–325

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!