Summary
In a newborn boy with multiple malformations, a tandem duplication was detected at the distal end of the long arm of one human chromosome 1. The Giemsa bands, 1q31 to 1q43–44, were repeated serially. Since 5S rRNA genes are located at 1q42–43, in situ hybridization of 125I 5S rRNA with fixed chromosome preparations was used to confirm the chromosomal duplication. The infant exhibited numerous developmental and clinical abnormalities as might be expected with an abnormality of chromosome structure relating to a ribosome component.
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Aloni, Y., Halten, L. E., Attardi, G.: Studies on the fractionated HeLa cell metaphase chromosomes. II. Chromosomal distribution of sites for transfer RNA and 5S RNA. J. Mol. Biol. 56, 555–563 (1971)
Atwood, K. C., Yu, M. T., Johnson, L. D., Henderson, A. S.: The site of 5S RNA genes in human chromosome 1. Cytogenet. Cell Genet. 15, 50–54 (1975)
Borgaonkar, D. S.: Chromosomal variation in man. Baltimore: Johns Hopkins University Press 1975
Hamerton, J. L., Cook, P. J. L.: Report of the committee on the genetic constitution of chromosomes 1 and 2. Cytogenet. Cell Genet. 14, 173–182 (1975)
Hamerton, J. L., Ray, M., Abbott, J., Williamson, C., Ducasse, G. C.: Chromosome studies in a neonatal population. Canad. Med. Assoc. J. 106, 776–779 (1972)
Hecht, F.: Disease state exhibiting visible chromosomal abnormalities. In: Endocrine and genetic diseases of childhood and adolescence, L. L. Gardner, ed., 2nd edition, pp. 675–701. Philadelphia: Saunders 1975
Ohno, S.: Evolution by gene duplication. Berlin/Heidelberg/New York: Springer-Verlag 1970
Pearson, P. L.: The uniqueness of the human karyotype. In: Chromosome identification: technique and applications in biology and medicine, Nobel Symbosium, Vol. 23, T. caspersson and L. Zech, eds., pp. 145–151. New York: Academic Press 1973
Pearson, R. L., Weiss, J. F., Kelmers, A. D.: Improved separation of transfer RNA's on polychlorotrifluoroethylene-supported reversed-phase chromatography columns. Biochem. Biophys. Acta 228, 770–774 (1971)
Prensky, W.: The radioiodination of RNA and DNA to high specific activities. In: Methods in Cell Biology, Vol. 13, D. M. Prescott, ed., pp. 121–152. New York: Academic Press 1976
Prensky, W., Steffensen, D. M., Hughes, W. L.: The use of iodinated RNA for gene localization. Proc. Natl. Acad. Sci. USA 70, 1860–1864 (1973)
Rowley, J. D.: Abnormalities of chromosome 1 in myeloproliferative disorders. Cancer 36, 1748–1757 (1975)
Sanger, R., Alfi, O., Donnell, G.: Partial trisomy 1q in 3 patients. Amer. J. Human Genet. 26, 75A (1974)
Saunders, G. F., Shirakawa, S., Saunders, P. P., Arrighi, F. E., Hsu, T. C.: Populations of repeated DNA sequences in the human genome. J. Mol. Biol. 63, 323–334 (1972)
Steffensen, D. M.: Human gene localization by RNA: DNA hybridization in situ. In: Chromosomes in biology and medicine, J. J. Yunis, ed., volume 1. New York: Academic Press (in press)
Steffensen, D. M., Duffey, P., Prensky, W.: Localisation of 5S ribosomal RNA genes on human chromosome 1. Nature 252, 741–743 (1974)
Steffensen, D. M., Prensky, W., Mutton, D., Hamerton, J. L.: Mapping the human 5S RNA genes on chromosome 1 using translocations. Cytogenet. Cell Genet. 14, 434–438 (1975)
Sun, N. C., Chu, E. H. Y., Chang, C. C.: Staining method for the banding patterns of human mitotic chromosomes. Caryologia 27, 315–324 (1974)
Tiepolo, L., Zuffardi, O.: Identification of normal and abnormal chromosomes in tumor cells. Cytogenet. Cell Genet. 12, 8–16 (1973)
Warburton, D., Bluming, A.: A “Philadelphia-like” chromosome derived from the Y in a patient with refractory dysplastic anemia. Blood 42, 799–804 (1973)
Wuster-Hill, D., Whang-Peng, J., McIntyre, O. R., Hsu, L. Y. F., Hirschhorn, K., Modan, B., Pisciotta, A. V., Pierre, R., Balcerzak, S. P., Weinfeld, A., Murphy, S.: Cytogenetic studies in polycythemia vera. Seminar Hematol. 13, 13–32 (1976)
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Steffensen, D.M., Chu, E.H.Y., Speert, D.P. et al. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum Genet 36, 25–33 (1977). https://doi.org/10.1007/BF00390432
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DOI: https://doi.org/10.1007/BF00390432