Cytogenetic investigations in families with ataxia-telangiectasia

Cytogenetics and Cell Genetics

Volumn 15, Issue 5, 1975, Pages 338-356

  Cohen, Maimon M ^a   Shaham, M ^a   Dagan, J ^a   Shmueli, E ^a   Kohn, G ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CYTOLOGY; DIAGNOSIS; HETEROZYGOTE; HISTOLOGY; IN VITRO STUDY; MAJOR CLINICAL STUDY; MARKER CHROMOSOME; RELATIVE;

ATAXIA TELANGIECTASIA; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, 13-15; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; LYMPHOCYTES; MALE; PEDIGREE; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 0016790862     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000130530     Document Type: Article

References (37)

1. BOCHKOV, N.P.; LOPUKHIN, Y.M.; KUKESHOV, N.P., and KOVALCHUK, L.V.; Cytogenetic study of patients with ataxia-telangiectasia. Humangenetik 24: 115-128 (1974).
2. COHEN, M.M.; ARIEL, J., and DAGAN, J.; Chromosome deletion (46,XY,20q-) in sideroblastic anemia. Israel J. med. Sci. 10: 1393-1396 (1974).
3. COHEN, M.M.; HIRSCHHORN, K., and FROSCH, W.A.; In vivo and in vitro chromosome damage induced by LSD-25. New Engl. J. Med. 277: 1043-1049 (1967).
4. FOGII, J. and FOGH, H.; Chromosome changes in cell culture induced by mycoplasma infection. Ann. N.Y. Acad. Sci. 255: 311-329 (1973).
5. GERMAN, J.; Genes which increase chromosomal instability in somatic cells and predispose to cancer. Prog. med. Genet. 1: 61-102 (Grune & Stratton, New York 1972).
6. GERMAN, J.; CRIPPA, L.P., and BLOOM, D.; Bloom’s syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma 48: 361-366 (1974).
7. GOODMAN, W.N.; COOPER, W.C.; KESSLER, G.B.; FISCHER, M.S., and GARDNER, A.B.; Ataxia-telangiectasia: a report of two cases in siblings presenting a picture of progressive spinal muscular atrophy. Bull. Los Angeles Neurol. Soc. 34: 1-22 (1969).
8. GROPP, A. and FLATZ, A.; Chromosome breakage and blastic transformation of lymphocytes in ataxia-telangiectasia. Humangenetik 5: 77-79 (1967).
9. HARNDEN, D.G.; Ataxia-telangicctasia syndrome: cytogenetic and cancer aspects. In J. GERMAN, ed.: Chromosomes and cancer, pp. 619-636 (J. Wiley & Sons, New York 1974).
10. HATCHER, N.H.; POLLARA, B., and HOOK, E.B.; Chromosome breakage in two siblings with ataxia-telangicctasia: a search for intra-familial similarities. [Abstr.] Am. J. hum. Genet. 26: 39A (1974).
11. HECHT, G. and CASE, M.; Emergence of a clone of lymphocytes in ataxia-telangiectasia. Proc. Am. Soc. hum. Genet. (1969).
12. HECHT, F. and MCKAW, B.K.; Evidence for a consistent chromosomal abnormality in ataxia-telangiectasia (A-T) lymphocytes. [Abstr] Am. J. hum. Genet. 25: 32A (1973).
13. HECHT, F.; MCKAW, B.K., and KOLER, R.D.; Ataxia-telangiectasia: clonal growth of translocation lymphocytes. New Engl. J. Med. 289: 286-291 (1973).
14. LEVIN, S. and PERLOV, S.; Ataxia-telangiectasia in Israel: with observations on its relationship to malignant disease. Israel J. med. Sci. 7: 1535-1541 (1971).
15. LIN, C.C.; UCHIDA, LA., and BYRNES, E.; A suggestion for the nomenclature of the fluorescent banding patterns in human metaphasc chromosomes. Can. J. Genet. Cytol. 13: 361-363 (1971).
16. LISKER, K. and GUTIERREZ, A.C.; Cytogenetic studies in Fanconi's anemia: description of a case with bone marrow clonal evolution. Clin. Genet. 5: 72-76 (1974).
17. MANOLOV, G. and MANOLOVA, Y.; Marker band in one chromosome 14 from Burkitt lymphomas. Nature, Lond. 237: 33-34 (1972).
18. MCCAW, B.K.; HECHT, F.; HARNDEN, D.G., and TEPLITZ, R.L.; Somatic rearrangement of chromosome 14 in human lymphocytes. Proc. natn. Acad. Sci. USA 72: 2071-2075 (1975).
19. NELSON, M.; BLOM, A., and ARENS, I.; Chromosome in ataxia-telangicctasia. Lancet i: 518-519 (1975).
20. NOWELL, P.C. and HUNGEREORD, D.A.; A minute chromosome in human granulocytic leukemia. Science 132: 1497 (1960).
21. PASSAGE, E.; Spontaneous chromosomal instability. Humangenetik 16: 151-157 (1972).
22. PATIL, S.R.; MERRICK, S., and LUBS, H.A.; Identification of each human chromosome with a modified Giemsa stain. Science 173: 821-822 (1971).
23. PETIT, P.; VERHEST, A. VAN DER; BILTY, L., and JONGSMA, A.; The chromosomes of the EB virus positive Burkitt cell line P3J-HR1K studied by fluorescent staining technique. Pathol. Eur. 7: 17-21 (1972).
24. PFEIFFER, R.A.; Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome). Humangenetik 8: 302-306 (1970).
25. RARY, J.M.; BENDER, M.A., and KELLY, T.E.; Cytogenetic studies of ataxia-telangiectasia. [Abstr.] Am. J. hum. Genet. 26: 70A (1974).
26. REEVES, B.R.; Cytogenetics of malignant melanomas. Humangenetik 20: 231-250 (1973).
27. REEVES, B.R.; LOBB, D.S., and LAWLER, S.D.; Identity of the abnormal F group chromosome associated with polycythemia vcra. Humangenetik 14: 159-161 (1972).
28. RICCIUTI, F. and RUDDLE, F.H.; Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics. Nature new Biol. 241: 180-182 (1973).
29. ROWLEY, J.D.; A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescences and Giemsa staining. Nature, Lond. 243: 290-293 (1973).
30. ROWLEY, J.D.; Nonrandom chromosomal abnormalities in hematologic disorders of man. Proc. natn. Acad. Sci. USA 72: 152-156 (1975).
31. SAKURAI, M.; OSHIMURA, M.; KAKATI, S., and SANDBERG, A.A.: 8-21 Translocation and missing sex chromosomes in acute leukemia. Lancet ii: 227-228 (1974).
32. SCHMID, W. and JERUSALEM, F.; Cytogenetic findings in two brothers with ataxia-telangiectasia (Louis Bars syndrome). Sond. Arch. Genet. 45: 49-52 (1972).
33. SCHNEIDER, E.L.; STANBRIDGE, E.J.; EPSTEIN, C.J.; GOLBUS, M.; ABBOHALBASCII, G., and RODGERS, G.; Mycoplasma contamination of cultured amniotic fluid cells: potential hazard to prenatal chromosomal diagnosis. Science 184: 477-479 (1974).
34. SEABRIGHT, M.; A rapid banding technique for human chromosomes. Lancet i: 971-972 (1971).
35. SHAW, M.W. and COHEN, M.M.; Chromosomal exchanges in human leukocytes induced by mitomycin C. Genetics 51: 181-190 (1965).
36. WHITE, A.; HANDLER, P., and SMITH, E.; Principles of biochemistry, 5th Ed. (McGraw Hill, New York 1973).
37. WURSTER-HILL, D.H.; MCINTYRE, O.R.; CORNWELL, G.G., and MAURER, L.H.; Marker chromosome 14 in multiple myeloma and plasma cell leukemia. Lancet ii: 1031 (1973).