Summary
Chromosome analysis has been made of 11 148 children; 29 had sex chromosome abnormalities (2.60 per 1000) and 64 autosomal abnormalities (5.74 per 1000). The total incidence of major chromosome abnormalities was 8.34 per 1000.
The incidence of chromosome variations was 16.8 per 1000. The most common variants were those with variation in size of short arms-satellites in D and G chromosomes and variations in Y chromosome size. So far, very little is known about the significance of such chromosome variations.
The incidence of most chromosome abnormaliies in liveborn children is well established by now from studies of a total of 54749 consecutively liveborn children in 6 studies as shown in Table 1. More chromosome studies of liveborn children are, however, needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations and an increased risk of getting children with unbalanced chromosome abnormalities, mental retardation and physical abnormalities. One of the main purposes in chromosome examination of newborn children is to study the development of children with different chromosome abnormalities, especially those with sex chromosome abnormalities, and compare them with controls, treat them when needed and give advice to the parents of such children.
Similar content being viewed by others
References
Bochkov, N. P., Kuleshov, N. P., Chebotarev, A. N., Alekhin, V. I., Midian, S. A.: Population cytogenetic investigation of newborns in Moscow. Humangenetik 22, 139–152 (1974)
Friedrich, U., Nielsen, J.: Chromosome studies in 5,049 consecutive newborn children. Clin. Genet. 4, 333–343 (1973)
Gerald, P. S., Walzer, S.: Chromosome studies of normal newborn infants. In: Human population cytogenetics (ed. P. A. Jacobs), pp. 143–151. Edinburgh: The University Press 1970
Hamerton, J. L., Canning, N., Ray, M., Smith, S.: A cytogenetic survey of 14,069 newborn infants. Incidence of chromosome abnormalities. Clin. Genet. In press (1975)
Hamerton, J. L., Ray, M., Abbott, J., Williamson, C., Ducasse, G. C.: Chromosome studies in a neonatal population. Canad. med. Ass. J. 106, 776–779 (1972)
Jacobs, P. A., Melville, M., Ratcliffe, S., Keay, A. J., Syme, J.: A cytogenetic survey of 11,680 newborn infants. Ann. hum. Genet. 37, 359–376 (1974)
Lubs, H. A., Ruddle, F. H.: Chromosomal abnormalities in the human population: Estimation of rates based on New Haven newborn study. Science 169, 495–497 (1970a)
Lubs, H. A., Ruddle, F. H.: Applications of quantitative karyotypy to chromosome variation in 4400 consecutive newborns. In: Human population cytogenetics (ed. P. A. Jacobs), pp. 119–142. Edinburgh: The University Press 1970b
Nielsen, J.: Chromosome examination of newborn children. Humangenetik 26, 215–222 (1975)
Nielsen, J., Friedrich, U.: Length of the Y chromosome in criminal males. Clin. Genet. 3, 281–285 (1972)
Nielsen, J., Friedrich, U., Hreidarsson, A. B., Zeuthen, E.: Frequency of 9qh+and risk of chromosome aberrations in the progeny of individuals with 9qh+. Humangenetik 21, 211–216 (1974)
Sergovich, F., Valentine, G. H., Chen, A. T. L., Kinch, R. A. H., Smout, M. S.: Chromosome aberrations in 2159 consecutive newborn babies. New Engl. J. Med. 280, 851–855 (1969)
Walzer, S., Gerald, P. S.: Chromosome abnormalities in 11,154 newborn infants. Amer. J. hum. Genet. 24, 38a (1972)
Walzer, S., Breau, G., Gerald, P. S.: A chromosome survey of 2,400 normal newborn infants. J. Pediat. 74, 438–448 (1969)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Nielsen, J., Sillesen, I. Incidence of chromosome aberrations among 11 148 newborn children. Humangenetik 30, 1–12 (1975). https://doi.org/10.1007/BF00273626
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00273626