Summary
The C-band areas of chromosomes 1, 9, and 16 were studied in 50 Japanese individuals, parents of Down's syndrome patients. In order to measure these areas, a modular system for semiautomatic quantitative evaluation of images (VIP-11, Olympus) was used. Each area was distributed according to a system of classfication proposed by Patil and Lubs (1977). The distribution of the C-band areas for each chromosome appeared to be significantly different from the distribution of these areas in a normal population chosen at random. The role that large constitutive heterochromatin variants may have in the occurrence of nondisjunction is considered.
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Balićek, P., Ziźka, J., and Skalská, H. 1977. Length of human constitutive heterochromatin in relation to chromosomal contraction.Hum. Genet. 38: 189–193.
Benyush, V.A., Luckash, V.G., and Shtannikov, A.V. 1977. Quantitative analysis of C-bands based on optical density profiles in human chromosomes.Hum. Genet. 39: 169–175.
Craig-Holmes, A.P., Moore, F.B., and Shaw, M.W. 1973. Polymorphism of human C-band heterochromatin. I. Frequency of variants.Am. J. Hum. Genet. 25: 181–192.
Ford, J.H., and Lester, P. 1978. Chromosomal variants and nondisjunction.Cytogenet. Cell Genet. 21: 300–303.
Halbrecht, I., and Shabtay, F. 1976. Human chromosome polymorphism and congenital malformations.Clin. Genet. 10: 113–122.
Hamerton, J.L. 1971. Human Cytogenetics. II. Clinical Genetics. Academic Press, New York, London, p. 236.
Jacobs, P.A. 1977. Human chromosome heteromorphisms. In:Progress in Medical Genetics. New Series, Steinberg, A.G., Bearn, A.G., Motulsky, A.G., Childs, B. eds. Saunders, Philadelphia, pp. 251–274.
Lubs, H.A., Patil, S.A., Kimberling, W.J., Brown, J., Cohen, M., Gerald, P., Hecht, F., Myrianthopoulos, N., and Summitt, R.L. 1977. Q and C polymorphisms in 7 and 8 year old children: racial differences and clinical significance. In:Population cytogenetics. Hook, E.R. and Porter, I.H. eds. Academic Press, New York, pp. 103–159.
Mason, D., Lauder, I., Rutovitz, D., and Spowart, G. 1975. Measurement of C-bands in human chromosomes.Comput. Biol. Med. 5: 179–201.
Matsuura, J., Mayer, M., and Jacobs, P. 1978. A cytogenetic survey of an institution for the mentally retarded. II. C-band chromosome heteromorphisms.Hum. Genet. 45: 33–41.
McKenzie, W.H., and Lubs, H.A. 1975. Human Q and C chromosomal variations: distribution and incidence.Cytogenet. Cell Genet. 14: 97–115.
Nielsen, J., Friedrich, U., and Hreidarsson, Á.B. 1974a. Frequency and genetic effect of 1qh+.Humangenetik 21: 193–196.
Nielsen, J., Friedrich, U., Hreidarsson, Á.B., and Zeuthen, E. 1974b. Frequency and segregation of 16qh+.Clin. Genet. 5: 316–321.
Nielsen, J., Friedrich, U., Hreidarsson, Á.B., and Zeuthen, E. 1974c. Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh +.Humangenetik 21: 211–216.
Paris Conference (1971): Standardization in human cytogenetics, Birth Defects: Original article series, Vol. 8, No. 7, National Foundation-March of Dimes, New York, 1972.
Paris Conference (1971), Supplement (1975): Standardization in human cytogenetics, Birth Defects: Original article series, Vol. 9, No. 9, National Foundation-March of Dimes, New York, 1975.
Patil, S.R., and Lubs, H.A. 1977. Classification of qh regions in human chromosomes 1, 9, and 16 by C-banding.Hum. Genet. 38: 35–38.
Podugolnikova, O.A., Parfenova, I.V., Sushanlo, H.M., and Prokofieva-Belgovskaja, A.A. 1979a. The quantitative analysis of polymorphism on human chromosomes 1, 9, 16, and Y.I. Description of individual karyotypes.Hum. Genet. 49: 243–250.
Podugolnikova, O.A., Sushanlo, H.M., Parfenova, I.V., and Prokofieva-Belgovskaja, A.A. 1979b. The quantitative analysis of polymorphism on human chromosomes 1, 9, 16, and Y. II. Comparison of the C-segments in male and female individuals (Group characteristics).Hum. Genet. 49: 251–260.
Sofuni, T., Naruto, J., and Awa, A. 1979. Quantiative analysis of C-bands based on area measurement.Jpn. J. Human. Genet. 24: 194–195.
Summer, A.T. 1972. A simple technique for demonstrating centromeric heterochromatin.Exp. Cell Res. 75: 304–306.
Tharapel, A.T., and Summitt, R.L. 1978. Minor chromosome variations and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls.Hum. Genet. 41: 121–130.
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Lopetegui, P.H. 1, 9, and 16 C-band heteromorphisms in parents of Down's syndrome patients: Distribution and etiological significance. Jap J Human Genet 25, 29–37 (1980). https://doi.org/10.1007/BF01876543
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DOI: https://doi.org/10.1007/BF01876543