The Principles of Clinical Cytogenetics - Extra Materials - Springer

Autosomal Aneuploidy 157
47. Hawley, R.S., Frazier, J.A., and Rasooly, R. (1994) Separation anxiety: the etiology of nondisjunction in flies and
people. Hum. Mol. Genet. 3, 1521–1528.
48. Alfi, O.S., Chang, R., and Azen, S.P. (1980) Evidence for genetic control of nondisjunction in man. Am. J. Hum. Genet.
32, 477–483.
49. Lejeune, J., Gautier, M., and Turpin, R. (1959) Les chromosomes humains en culture de tissus. C.R. Acad. Sci. 248,
602–603.
50. Down, J.L.H. (1866) Observations on an ethnic classification of idiots. Clin. Lect. Rep. London Hosp. 3, 259.
51. Griffin, D.K., Abruzzo, M.A., Millie, E.A., Feingold, E., and Hassold, T.J. (1996) Sex ratio in normal and disomic
sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome. Am. J. Hum. Genet.
59, 1108–1113.
52. Cuckle, H.S., Wald, N.J., and Thompson, S.G. (1987) Estimating a woman’s risk of having a pregnancy associated with
Down’s syndrome using her age and serum alpha-fetoprotein level. Br. J. Obstet. Gynaecol. 94, 387–402.
53. Hecht, C.A. and Hook, E.B. (1994) The imprecision in rates of Down syndrome by 1-year maternal age intervals: a
critical analysis of rates used in biochemical screening. Prenat. Diagn. 14, 729–738.
54. de Grouchy, J. and Turleau, C. (eds.) (1984) Clinical Atlas of Human Chromosomes. John Wiley, New York.
55. Jones, K.L. (ed.) (1997) Smith’s Recognizable Patterns of Human Malformation. WB Saunders, Philadelphia.
56. Fong, C.T. and Brodeur, G.M. (1987) Down’s syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms
of leukemogenesis. Cancer Genet. Cytogenet. 28, 55–76.
57. Bhatt, S., Schreck, R., Graham, J.M., Korenberg, J.R., Hurvitz, C.G., and Fischel-Ghodsian, N. (1995) Transient leukemia
with trisomy 21: description of a case and review of the literature. Am. J. Med. Genet. 58, 310–314.
58. Pellissier, M.C., Laffage, M., Philip, N., Passage, E., Mattei, M.G., and Mattei, J.F. (1988) Trisomy 21q223 and Down’s
phenotype correlation evidenced by in situ hybridization. Hum. Genet. 80, 277–281.
59. McCormick, M.K., Schinzel, A., Petersen, M.B., et al. (1989) Molecular genetic approach to the characterization of the
“Down syndrome region” of chromosome 21. Genomics 5, 325–331.
60. Rahmani, Z., Blouin, J.L., Creau-Goldberg, N., et al. (1989) Critical role of the D21S55 region on chromosome 21 in
the pathogenesis of Down syndrome. Proc. Natl. Acad. Sci. USA 86, 5958–5962.
61. Delabar, J.M., Theophile, D., Rahmani, Z., et al.(1993) Molecular mapping of twenty-four features of Down syndrome
on chromosome 21. Eur. J. Hum. Genet. 1, 114–124.
62. Korenberg, J.R., Kawashima, H., Pulst, S.M., et al. (1990) Molecular definition of a region of chromosome 21 that
causes features of the Down syndrome phenotype. Am. J. Hum. Genet. 47, 236–246.
63. Barlow, G.M., Chen, X-N., Shi, Z.Y., et al. (2001) Down syndrome congenital heart disease: a narrowed region and a
candidate gene. Genet. Med. 3, 91–101.
64. Korenberg, J.R., Chen, X.N., Schipper, R., et al. (1994) Down syndrome phenotypes: the consequences of chromosomal
imbalance. Proc. Natl. Acad. Sci. USA 91, 4997–5001.
65. Gardner, R.J.M. and Sutherland, G.R. (eds.) (1996) Chromosome Abnormalities and Genetic Counseling. Oxford Monographs
on Medical Genetics No. 29. Oxford University Press, New York.
66. Pangalos, C.G., Talbot, C.C., Jr., Lewis, J.G., et al. (1992) DNA polymorphism analysis in families with recurrence of
free trisomy 21. Am. J. Hum. Genet. 51, 1015–1027.
67. Harris, D.J., Begleiter, M.L., Chamberlin, J., Hankins, L., and Magenis, R.E. (1982) Parental trisomy 21 mosaicism.
Am. J. Hum. Genet. 34, 125–133.
68. Nielsen, K.G., Poulsen, H., Mikkelsen, M., and Steuber, E. (1988) Multiple recurrence of trisomy 21 Down syndrome.
Hum. Genet. 78, 103–105.
69. Niikawa, N. and Kajii, T. (1984) The origin of mosaic Down syndrome: four cases with chromosome markers. Am. J.
Hum. Genet. 36, 123–130.
70. Pangalos, C., Avramopoulos, D., Blouin, J., et al. (1994) Understanding the mechanism(s) of mosaic trisomy 21 by
using DNA polymorphism analysis. Am. J. Hum. Genet. 54, 473–481.
71. Edwards, J.H., Harnden, D.G., Cameron, A.H., Crosse, V.M., and Wolff, O.H. (1960) A new trisomic syndrome. Lancet
1, 787–790.
72. Carter, P., Pearn, J., Bell, J., Martin, N., and Anderson, N. (1985) Survival in trisomy 18. Clin. Genet. 27, 59–61.
73. Young, I., Cook, J., and Mehta, L. (1986) Changing demography of trisomy 18. Arch. Dis. Child. 61, 1035–1036.
74. Goldstein, H. and Nielsen, K. (1988) Rates and survival of individuals with trisomy 13 and 18. Clin. Genet. 34,
366–372.
75. Root, S. and Carey, J.C. (1994) Survival in trisomy 18. Am J. Med. Genet. 49, 170–174.
76. Geiser, C.F. and Chindlera, N. (1969) Long survival in a male with trisomy 18 and Wilms tumor. Pediatrics 44, 111.
77. Van Dyke, D.C., and Allen, M. (1990) Clinical management considerations in long-term survivors with trisomy 18.
Pediatrics 85, 753–759.
78. Mehta, L., Shannon, R.S., Duckett, D.P., and Young, I.D. (1986) Trisomy 18 in a 13 year old girl. J. Med. Genet. 23,
256–257.
79. Beratis, N.G., Kardon, N.B., Hsu, L.Y.F., Grossmann, D., and Hirschhorn, K. (1972) Prenatal mosaicism in trisomy 18.
Pediatr. 50, 908–911.