Abstract
With the aid of high resolution chromosome banding, a t(3;20) translocation was discovered in a large family with six retarded members. The translocation involved very small terminal segments. The unbalanced products resulting in partial trisomy 20q and monosomy 3p were observed in the retarded subjects. Gene localisation studies of the ADA gene, with a presumed locus on the long arm of chromosome 20, were also carried out and seem to exclude this gene from the distal part of 20q (20q13.1----qter).
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- Centerwall W., Francke U. Familial trisomy 20p five cases and two carriers in three generations a review. Ann Genet. 1977 Jun;20(2):77–83. [PubMed] [Google Scholar]
- Funderburk S. J., Sparkes R. S., Sparkes M. C. Trisomy 20p due to a paternal reciprocal translocation. Ann Genet. 1983;26(2):94–97. [PubMed] [Google Scholar]
- Gadeberg O., Andersen V., Cohn J., Hesse J., Mejer J., Nygaard P., Petersen J., Faber V. Clinical symptoms, immunoglobulin levels, immunoglobulin secreting cell numbers and mononuclear cell purine enzyme activities during the course of infectious mononucleosis. Dan Med Bull. 1984 Dec;31(6):507–511. [PubMed] [Google Scholar]
- Honig J., Martiniuk F., D'Eustachio P., Zamfirescu C., Desnick R., Hirschhorn K., Hirschhorn L. R., Hirschhorn R. Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization. Ann Hum Genet. 1984 Jan;48(Pt 1):49–56. doi: 10.1111/j.1469-1809.1984.tb00833.x. [DOI] [PubMed] [Google Scholar]
- Mejer J., Hørbov S., Nygaard P. Purine metabolizing enzymes in lymphocytes from patients with solid tumors. Acta Med Scand. 1984;215(1):5–11. doi: 10.1111/j.0954-6820.1984.tb04963.x. [DOI] [PubMed] [Google Scholar]
- Mohandas T., Sparkes R. S., Passage M. B., Sparkes M. C., Miles J. H., Kaback M. M. Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation. Cytogenet Cell Genet. 1980;26(1):28–35. doi: 10.1159/000131418. [DOI] [PubMed] [Google Scholar]
- Pawlowitzki I. H., Gröbe H., Holzgreve W. Trisomy 20q due to maternal t(16;20) translocation. First case. Clin Genet. 1979 Feb;15(2):167–170. doi: 10.1111/j.1399-0004.1979.tb01756.x. [DOI] [PubMed] [Google Scholar]
- Philip T., Lenoir G., Rolland M. O., Philip I., Hamet M., Lauras B., Fraisse J. Regional assignment of the ADA locus on 20q13.2 leads to qter by gene dosage studies. Cytogenet Cell Genet. 1980;27(2-3):187–189. doi: 10.1159/000131481. [DOI] [PubMed] [Google Scholar]
- Rudd N. L., Bain H. W., Giblett E., Chen S. H., Worton R. G. Partial trisomy 20 confirmed by gene dosage studies. Am J Med Genet. 1979;4(4):357–364. doi: 10.1002/ajmg.1320040407. [DOI] [PubMed] [Google Scholar]
- Stene J., Stengel-Rutkowski S. Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies. Ann Hum Genet. 1982 Jan 1;46(Pt 1):41–74. doi: 10.1111/j.1469-1809.1982.tb00694.x. [DOI] [PubMed] [Google Scholar]
- Tischfield J. A., Creagan R. P., Nichols E., Ruddle F. H. Proceedings: Assignment of adenosine deaminase to chromosome 20. Cytogenet Cell Genet. 1974;13(1):160–163. doi: 10.1159/000130263. [DOI] [PubMed] [Google Scholar]
- Yunis J. J. High resolution of human chromosomes. Science. 1976 Mar 26;191(4233):1268–1270. doi: 10.1126/science.1257746. [DOI] [PubMed] [Google Scholar]