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Chromosome studies in IgA-deficient patients

Corresponding Author

R. D. F. M. Taalman

Departments of Human Genetics and Pediatrics

R. D. F. M. Taalman / T. W. J. Hustinx Department of Human Genetics University of Nijmegen Geert Grooteplein Zuid 10 P. O. Box 9101 6500 NB Nijmegen The NetherlandsSearch for more papers by this author

C. M. R. Weemaes,

C. M. R. Weemaes

*University of Nijmegen, Nijmegen, The Netherlands

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T. W. J. Hustinx,

T. W. J. Hustinx

Departments of Human Genetics and Pediatrics

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J. M. J. C. Scheres,

J. M. J. C. Scheres

Departments of Human Genetics and Pediatrics

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J. M. E. Clement,

J. M. E. Clement

Departments of Human Genetics and Pediatrics

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G. B. A. Stoelinga,

G. B. A. Stoelinga

*University of Nijmegen, Nijmegen, The Netherlands

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R. D. F. M. Taalman,

Corresponding Author

R. D. F. M. Taalman

Departments of Human Genetics and Pediatrics

C. M. R. Weemaes,

C. M. R. Weemaes

*University of Nijmegen, Nijmegen, The Netherlands

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T. W. J. Hustinx,

T. W. J. Hustinx

Departments of Human Genetics and Pediatrics

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J. M. J. C. Scheres,

J. M. J. C. Scheres

Departments of Human Genetics and Pediatrics

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J. M. E. Clement,

J. M. E. Clement

Departments of Human Genetics and Pediatrics

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G. B. A. Stoelinga,

G. B. A. Stoelinga

*University of Nijmegen, Nijmegen, The Netherlands

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First published: August 1987

https://doi.org/10.1111/j.1399-0004.1987.tb03330.x

Citations: 11

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Abstract

Chromosome analysis was performed in 17 children ith IgA-deficiency. In two patients a constitutional structural chromosome abnormality was found. A ring chromosome 22 was seen in one, while in the other a mosaicism of ring chromosome 18/18p+ was observed. Both patients wcre metanlly retarded and showed distinct congénital defects. From ten asymptomatic patients, spontaneous as well as X-ray-induced chromosome instability was investigated. There was no increased spontaneous instability, and also after irradiation the induced chromosome damage was within normal control levels. A relationship between IgA-deficiency and X-ray hypersensitivity, as might be suggested by the frequently occurring coïncidence of radiosensitivi-ty and IgA-deficiency in ataxia teleangiectasia patients, is not established.

References

Boder, F. (1975). Ataxia telangiectasia: some his-toric, clinical and pathological observations. Birth Defects XI, 255–270.
Google Scholar
Dallapiccola, B., V. Brinchi & P. Curatolo (1977). Variability of r(22) chromosome phenotypical expression. Acta Genet. Med. Gemellol. (Roma) 26, 287–290.
10.1017/S0001566000009788
CAS PubMed Web of Science® Google Scholar
Erickson, J., J. Martinis & C. M. Croce (1981). Assignment of the genes for human lambda immunoglobulin chains to chromosome 22. Nature 294, 173–175.
10.1038/294173a0
CAS PubMed Web of Science® Google Scholar
Feingold, M., R. S. Schwartz, L. Atkins, L. An-derson, C. S. Bartsocas, D. L. Page & J. W. Littlefield (1969). IgA deficiency associated with partial deletion of chromosome 18. Am. J. Dis. Child. 117, 129.
PubMed Web of Science® Google Scholar
Fine, J. M., J. Moullec, P. Lambin & D. Frommel (1973). Frequence des deficit isoles en IgA dans la population normale. Etude sur 15200 donneurs de sang. Rev. Fr. Transfus. 16, 269–277.
10.1016/S0035-2977(73)80065-3
CAS PubMed Web of Science® Google Scholar
Grundbacher, F. J. (1972). Genetic aspects of selective immunoglobulin A deficiency. J. Med. Genet. 9, 344–347.
10.1136/jmg.9.3.344
PubMed Web of Science® Google Scholar
Herrmann, R. P., L. Chipper & S. Bell (1982). Chromosomal studies in healthy blood donors with IgA deficiency. Clin. Genet. 22, 231–233.
10.1111/j.1399-0004.1982.tb01439.x
CAS PubMed Web of Science® Google Scholar
Kadotani, T. & Y. Watanabe (1984). A case with ring chromosome of no. 18. Proc. Jpn. Acad. 60 (B), 372–373.
10.2183/pjab.60.372
Web of Science® Google Scholar
Lewkonia, R. M., C. C. Lin & R. H. A. Haslam (1980). Selective IgA deficiency with 18q+ and 18q — karyotypic anomalies. J. Med. Genet. 17, 453–456.
10.1136/jmg.17.6.453
CAS PubMed Web of Science® Google Scholar
McFarlin, D. E., W. Strober & T. A. Waldmann (1972). Ataxia telangiectasia. Medicine (Baltimore) 51, 281–314.
10.1097/00005792-197207000-00002
CAS PubMed Web of Science® Google Scholar
Miranda, J. L. G., A. O. Gomez, H. V. Ansedes, N. R. Torres, C. G. Espinosa, C. Cortabarria & G. S. Salgado (1982). Monosomy 22 with humoral immunodeficiency: is there a immunoglobulin chain deficit J. Med. Genet. 19, 69–71.
Google Scholar
Nagasawa, H., S. A. Latt, M. E. Lalande & J. B. Little (1985). Effects of X-irradiation on cell cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat. Res. 148, 71–82.
10.1016/0027-5107(85)90209-X
CAS PubMed Web of Science® Google Scholar
Parshad, R., K. K. Sanford, G. M. Jones & R. E. Tarone (1985). G2 chromosomal radiosensi-tivity of ataxia telangiectasia heterozygotes. Cancer Genet. Cytogenet. 14, 163–168.
10.1016/0165-4608(85)90227-4
CAS PubMed Web of Science® Google Scholar
Scheres, J. M. J. C. (1976). CT-banding of the human chromosomes: description of the band-ing technique and some of its modifications. Hum. Genet. 31, 293–307.
10.1007/BF00270859
CAS PubMed Web of Science® Google Scholar
Stricker, R. B. & C. A. Linker (1982). Pernicious anemia, 18q deletion syndrome, and IgA deficiency. JAMA 248, 1359–1360.
10.1001/jama.248.11.1359
CAS PubMed Web of Science® Google Scholar
Taalman, R. D. F. M., N. G. J. Jaspers, J. M. J. C. Scheres, J. de Wit & T. W. J. Hustinx (1983). Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, The Nijmegen Breakage Syndrome. Mutat. Res. 112, 23–32.
10.1016/0167-8817(83)90021-4
CAS PubMed Web of Science® Google Scholar
Taylor, A. M. R., D. G. Harnden, C. F. Arlett, S. A. Harcourt, S. Stevens & B. A. Bridges (1975). Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258, 427–429.
10.1038/258427a0
CAS PubMed Web of Science® Google Scholar
van Munster, P. J. J., G. E. J. M. Hoelen, M. Sanwell-Mantingh & M. Holtman-van Meurs (1977). A turbidimetric immunoassay (TIA) with automated individual blank compensation. Clin. Chim. Acta 76, 377–388.
10.1016/0009-8981(77)90165-6
CAS PubMed Web of Science® Google Scholar
Weemaes, C. M. R., G. F. M. Hendrickx, M. A. van't Hoff, P. J. J. van Munster, G. B. A. Stoelinga (1979). Age changes in serum immu-noglobulins. In A Mixed Longitudinal Inter-disciplinary Study on Growth and Development. B. Prahl-Anderson, Ch. J. Kowalski & P. H. J. M. Heyendaal (eds.) New York , Academie Press, pp. 465–490.
Google Scholar
Weemaes, C. M. R., T. W. J. Hustinx, J. M. J. C. Scheres, P. J. J. van Munster, J. A. J. M. Bakkeren & R. D. F. M. Taalman (1981). A new chromosomal instability disorder: The Nijmegen Breakage Syndrome. Acta Paediatr. Scand. 70, 557–564.
10.1111/j.1651-2227.1981.tb05740.x
CAS PubMed Web of Science® Google Scholar

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Volume32, Issue2

August 1987

Pages 81-87

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