Abstract
The rationale for a conference on the etiology and mechanisms of aneuploidy is of course based upon the well-recognized association of chromosome abnormalities with human morbidity and mortality. Down syndrome, the best recognized phenotype, is only one of numerous adverse consequences of aneuploidy.
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References
Angell, R.R., A. Sandison, and A.D. Bain (1984) Chromosome variation in perinatal mortality: A survey of 500 cases. J. Med. Genet. 21: 39–44.
Anglani, F., C. Baccichetti, L. Artifoni, E. Lenzini, and R. Tenconi (1984) Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality. Clin. Genet. 25: 242–247.
Babu, V.R., D.L. Van Dyke, and C.E. Jackson (1984) Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: A double- blind study. Proc. Natl. Acad. Sei., USA 81: 2525–2528.
Blomquist, H.K. (1982) Mental retardation in children. An epidemiological and etiological study of mentally retarded children born 1959–1970 in a northern Swedish county. UMEA Univ. Med. Dissertations, New Series No. 76, UMEA, pp. 1–145.
Buhler, E.M., and N.J. Malik (1984) The Tricho-Rhino-Phalangeal Syndrome (s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP 1 and TRP II Syndrome: Are they separate entities? Amer. J. Med. Genet. 19: 113–119.
Byrne, J., D. Warburton, J. Kline, W. Blanc, and Z. Stein (in press) The morphology of early fetal deaths and their chromosomal character. Teratology.
Carothers, A.D., K.E. Buckton, S. Collyer, R. DeMey, A. Frackiewicz, J. Piper, and L. Smith (1982) The efJrect of variant chromosomes on reproductive fitness in man. Clin. Genet. 21: 280–289.
Chandley, A., P. Edmond, S. Christie, L. Gowans, J. Fletcher, A. Frackiewicz, and M. Newton (1975) Cytogenetics and infertility in men. Ann. Hum. Genet. 39: 231–252.
Coco, R., and V.B. Penchaszadeh (1982) Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. Amer. J. Med. Genet. 12: 155–173.
Curry, C.J.R., R.E. Magenis, M. Brown, J.T. Lanman, Jr., et al. (1984) Inherited chondrodysplasia punctata due to a deletion ot the terminal short arm of a X chromosome. New Eng. J. Med. 311: 1010–1015.
de la Chapelle, A., R. Herva, M. Koivisto, and P. Aula (1981) A deletion in chromosome 22 can cause Di George Syndrome. Hum. Genet. 57: 253–256.
Dobyns, W.B., R.F. Stratton, J.T. Parke, F. Greenberg, R.L. Nussbaum, and D.H. Ledbetter (1983) Miller-Dieker Syndrome: Lissencephaly and monosomy 17P. J. Peds. 102 (4): 552–558.
Ferencz, C., G.A. Corts, J.A. Rubin, and R.J. McCarter (1984) An etiological link of cardiac, blood and collagen disorders? Presentation to the 24th Annual Meeting, Teratology Society, Boca Raton, June 5, 1984.
Fitzgerald, P.H., and C.M. McEwan (1977) Total aneuploidy and age- related sex chromosome aneuploidy in cultured lymphocytes of normal men and women. Hum. Genet. 39: 329–338.
Francke, U. (1976) Retinoblastoma and chromosome 13. Cytogenet. Cell Genet. 16: 131–134.
Francke, U., L.B. Holmes, L. Atkins, and V.M. Riccardi (1979) Aniridia-Wilm’s tumor association: Evidence for specific deletion of llpl3. Cytogenet. Cell Genet. 24: 185–192.
Froster-Iskenius, U., G. Felsch, C. Schirren, and E. Schwinger (1983) Screening for fra(x)(q) in a population of mentally retarded males. Hum. Genet. 63: 153–157.
Fryns, J.P., N. Logghe, M. van Eygen, and H. Van den Berghe (1981) Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum. Genet. 58: 231–232.
Galloway, S.M., and K.E. Buckton (1978) Aneuploidy and ageing: chromosome studies on a random sample of the population using G-band- ing. Cytogenet. Cell Genet. 20: 78–95.
Genest, P. (19/9) Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clin. Genet. 16: 387–389.
Hamerton, J.L., A.I. Taylor, R. Angell, and V.M. McGuire (1965) Chromosome investigations of a small isolated human population: Chromosome abnormalities and distribution of chromosome counts according to age and sex among the population of Tristan de Cunha. Nature (London) 206: 1232–1234.
Hendry, W.F., P.E. Polani, R.C.B. Pugh, J.E. Sommerville, and D.M. Wallace (1975) 200 infertile males: Correlation of chromosome, histological, endocrine, and clinical studies. Brit. J. Urol. 47: 899–908.
Hook, E.B. (197/) Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use. Amer. J. Hum. Genet. 29: 94–97.
Hook, E.B., and J.L Hamerton (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies, differences between studies, results by sex and severity of phenotypic involvement. In Population Cytogenetics: Studies in Humans, E.B. Hook and I.H. Porter, eds. Academic Press, New York, pp. 63–79.
Hook, E.B. (1978) Models and assumptions in calculating the probabilities of detecting chromosomal mosaicism. Hum. Genet. 40: 235–239.
Hook, E.B. (1979) Extra sex chromosome and human behavior: The nature of the evidence regarding XYY, XXY, XXYY, and XXX genotypes. In Genetic Aspects of Sexual Differentiation, H.L. Vallet and I.H. Porter, eds. Academic Press, New York, pp. 437–464.
Hook, E.B. (1980) Down syndrome: Frequency in human populations and factors pertinent to variation in rates. In Trisomy 21 (Down Syndrome), Research Perspectives, F. de la Cruz and P.S. Gerald, eds. University Park Press, Baltimore, pp. 3–6/.
Hook, E.B. (1981) Prevalence of chromosome abnormalities during human gestation and implications for studies of environmental mutagens. Lancet 2: 169–172.
Hook, E.B. (1983) Perspectives in mutation epidemiology: 3. Contribution of chromosome abnormalities to human morbidity and mortality and some comments upon surveillance of chromosome mutation rates. Mut. Res. 114: 389–423.
Husslein, R., J. Huber, P. Wagenbichler, and W. Schnedl (1982) Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fert. and Steril. 37 (3): 379–383.
Innes, G., A.W. Johnston, and W.M. Millar (1978) Mental subnormality in North-East Scotland. A multi-disciplinary study of total population. Scottish Health Service Studies, No. 38, Scottish Home and Health Dept., pp. 1–87.
Jacobs, P.A., P.A. Hunt, J.S. Matsuura, C.C. Wilson, and A.E. Szulman (1982) Complete and partial hydatidiform mole in Hawaii: Cytogenetics, morphology and epidemiology. Brit. J. Obst. Gynaecol. 89: 258–266.
Kajii, T., and A. Ferrier (1978) Cytogenetics of aborters and abortuses. Amer. J. Obstet. Gynecol. 131 (1): 33–38.
Kajii, T., K. Ohama, and K. Mikamo (1978) Anatomic and chromosomal anomalies in 944 induced abortuses. Hum. Genet. 43: 247–258.
Kardon, N.B., J.G. Davis, A.L. Berger, and A. Broekman (1980) Incidence of chromosomal rearrangements in couples with reproductive loss. Hum. Genet. 53: 161–164.
Kelley, R.I., E.H. Zackai, B.S. Emanuel, M. Kistenmacher, F. Greenberg, and H.H. Punnett (1982) The associations of the DiGeorge anoma- lad with partial monosomy of chromosome 22. J. Peds. 101 (2): 197 - 200.
Ledbetter, D.H., J.T. Mascarello, V.M. Riccardi, V.D. Harper, S.D. Airhart, and R.J. Strobel (1983) Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow up report of 40 cases. Amer. J. Hum. Genet. 34: 278–285.
Linder, D., B.K. McCaw, and F. Hecht (1975) Parthenogenic origin of benign ovarian teratomas. New Eng. J. Med. 292: 63–66.
McDonald, A.D. (1973) Severely retarded children in Quebec. Prevalence, causes and care. Amer. J. Ment. Def. 78: 205–215.
Mennuti, M.T., S. Jingeleski, R.H. Schwarz, and W.J. Mellman (1978) An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet. Gynecol. 52: 308–313.
Moser, H.W., and P.A. Wolf (1971) The nosology of mental retardation; including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School; clinical delineation of birth defects. Part 6: The nervous system. Birth Def. Prig. Art. Ser. 7 (1): 117–134.
Nielsen, J. (1978) Large Y chromosome (Yq+) and increased risk of abortion. Clin. Genet. 13: 415–416.
Ohama, K., T. Kajii, E. Okamoto, Y. Fukuda, K. Imaizumi, M. Tsukahara, K. Kobayashi, and K. Hagiwara (1981) Dispermic origin of XY hydatidi- form moles. Nature 292: 551–552.
Pantzar, J.T., J.E. Allanson, K. Kalousek, and B.J. Poland (1984) Cytogenetic findings in 318 couples with repeated spontaneous abortion: A review of experience in British Columbia. Amer. J. Med. Genet. 17: 615–620.
Patil, S.R., and H.A. Lubs (1977) A possible association of long Y chromosomes and fetal loss. Hum Genet. 35: 233–235.
Raimondi, S.C., F.W. Luthardt, R.L. Summitt, and P.R. Martens (1983) High-resolution chromosome analysis ot phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63: 310–314.
Reindollar, R.H., J.R. Byrd, and P.G. McDonough (1981) Delayed sexual development: A study of 252 patients. Amer. J. Obstet. Gynecol. 140: 371–380.
Rieger, R., A. Michaelio, and M.M. Green (1976) Glossary of Genetics and Cytogenetics: Classical and Molecular, Springer-Verlag, Berlin, pp. 30–31.
Robinson, A., H.A. Lubs, and D. Bergsma (1979) Sex Chromosome Aneu- ploidy: Prospective Studies of Children, Alan R. Liss, Inc., New York, p. 281.
Schneider, E.L., and B. Gilman (1979) Sister chromatid exchange and aging. III. The effect of donor age on mutagen induced sister chromatid exchange in human diploid fibroblasts. Hum Genet. 46: 57–63.
Small, M.F., and D.G. Smith (1983) Chromosomal analysis of perinatal death in Macaca mulatta and Macaca radiata. Amer. J. Primatology 5: 381–384.
Stewart, D.A. (1982) Children with Sex Chromosome Aneuploidy: Follow Up Studies, Alan R. Liss, Inc., New York, p. 251.
Sutherland, G.R. (1979) Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects and cytogenetics. Amer. J. Hum. Genet. 31: 136–148.
Sutherland, G.R., R.F. Carter, R. Bauld, I.I. Smith, and A.D. Bain (1978) Chromosome studies at the pediatric necropsy. Ann. Hum. Genet. 42: 178–181.
Szulman, A.E., and U. Surti (1978) The syndromes of hydatidiform mole. II. Morphologic evolution of the complete and partial mole. Amer. J. Obstet. Gynecol. 132: 20–27.
Tharapel, A.T., and R.L. Summitt (1977) A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls. Hum. Genet. 37: 329–338.
Tierney, I., D. Axworthy, L. Smith, and S.G. Ratcliffe (1984) Balanced rearrangements of the autosomes: Results of a longitudinal study of a newborn survey population. J. Med. Genet. 21: 45–51.
Turner, G., and P.A. Jacobs (1983) Marker (X)-linked mental retardation. Adv. Hum. Genet. 13: 83–112.
Verma, R.S., J. Shah, and H. Dosik (1983) Size of Y chromosome not associated with abortion risk. Obst. Gynecol. 61 (5): 633–634.
Warburton, D., Z. Stein, J. Kline, and M. Susser (1980) Chromosome abnormalities in spontaneous abortion: Data from the New York City study. In Human Embryonic and Fetal Death, I.H. Porter and E.B. Hook, eds. Academic Press, New York, pp. 261–287.
Ward, B.G., G.P. Henry, and A. Robinson (1980) Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Amer. J. Hum. Genet. 32: 549–554.
Wertelecki, W., P. Logsdon, and V.G. Dev (1983) Multiple premature centromere separation in a patient without Roberts syndrome. Amer. J. Hum. Genet. 35: 160A.
Yamamoto, M., and G. Watanabe (1979) Epidemiology of gross chromosomal anomalies at the early embryonic stage of pregnancy. Contr. Epidem. Biostatist. 1: 101–106.
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Hook, E.B. (1985). The Impact of Aneuploidy Upon Public Health: Mortality and Morbidity Associated with Human Chromosome Abnormalities. In: Dellarco, V.L., et al. Aneuploidy. Basic Life Sciences, vol 36. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2127-9_2
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DOI: https://doi.org/10.1007/978-1-4613-2127-9_2
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