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. 1983 Dec;20(6):404–407. doi: 10.1136/jmg.20.6.404

Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.

M Vekemans, B Popovich, D Rosenblatt, P Monroe
PMCID: PMC1049167  PMID: 6655666

Abstract

To investigate whether the fragile X syndrome is associated with a generalised chromosomal instability, we compared the frequency and distribution of chromosomal breakage in lymphocytes grown in low folate medium from normal subjects and from patients with the syndrome. Although low folate conditions increased the rate of chromosome breakage, no difference in frequency or distribution of chromosomal breakage was found between the two groups. This suggests that the fragile X syndrome is not associated with a generalised chromosome instability expressed in folate deficient medium and assessed in terms of chromosomal breakage.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aymé S., Mattei J. F., Mattei M. G., Aurran Y., Giraud F. Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects. Hum Genet. 1976 Feb 29;31(2):161–175. doi: 10.1007/BF00296144. [DOI] [PubMed] [Google Scholar]
  2. Daker M. G., Chidiac P., Fear C. N., Berry A. C. Fragile X in a normal male: a cautionary tale. Lancet. 1981 Apr 4;1(8223):780–780. doi: 10.1016/s0140-6736(81)92652-0. [DOI] [PubMed] [Google Scholar]
  3. Fryns J. P., van den Berghe H. Transmission of fragile (X)(q27) from normal male(s). Hum Genet. 1982;61(3):262–263. doi: 10.1007/BF00296456. [DOI] [PubMed] [Google Scholar]
  4. Harvey J., Judge C., Wiener S. Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet. 1977 Feb;14(1):46–50. doi: 10.1136/jmg.14.1.46. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Heath C. W., Jr Cytogenetic observations in vitamin B12 and folate deficiency. Blood. 1966 Jun;27(6):800–815. [PubMed] [Google Scholar]
  6. Herbst D. S., Dunn H. G., Dill F. J., Kalousek D. K., Krywaniuk L. W. Further delineation of X-linked mental retardation. Hum Genet. 1981;58(4):366–372. doi: 10.1007/BF00282817. [DOI] [PubMed] [Google Scholar]
  7. Howard-Peebles P. N., Stoddard G. R. X-linked mental retardation with macro-orchidism and marker X chromosomes. Hum Genet. 1979 Sep;50(3):247–251. doi: 10.1007/BF00399389. [DOI] [PubMed] [Google Scholar]
  8. Jacobs P. A., Glover T. W., Mayer M., Fox P., Gerrard J. W., Dunn H. G., Herbst D. S. X-linked mental retardation: a study of 7 families. Am J Med Genet. 1980;7(4):471–489. doi: 10.1002/ajmg.1320070408. [DOI] [PubMed] [Google Scholar]
  9. Jennings M., Hall J. G., Hoehn H. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet. 1980;7(4):417–432. doi: 10.1002/ajmg.1320070404. [DOI] [PubMed] [Google Scholar]
  10. Leversha M. A., Webb G. C., Pavey S. M. Chromosome banding required for studies on X-linked mental retardation. Lancet. 1981 Jan 3;1(8210):49–49. doi: 10.1016/s0140-6736(81)90160-4. [DOI] [PubMed] [Google Scholar]
  11. Lubs H. A. A marker X chromosome. Am J Hum Genet. 1969 May;21(3):231–244. [PMC free article] [PubMed] [Google Scholar]
  12. Markkanen A., Heinonen K., Knuutila S., de la Chapelle A. Methotrexate-induced increase in gap formation in human chromosome band 3p14. Hereditas. 1982;96(2):317–319. doi: 10.1111/j.1601-5223.1982.tb00866.x. [DOI] [PubMed] [Google Scholar]
  13. Martin R. H., Lin C. C., Mathies B. J., Lowry R. B. X-linked mental retardation with macro-orchidism and marker-X chromosomes. Am J Med Genet. 1980;7(4):433–441. doi: 10.1002/ajmg.1320070405. [DOI] [PubMed] [Google Scholar]
  14. Nielsen K. B., Tommerup N., Poulsen H., Mikkelsen M. Apparent homozygosity for the fragile site at Xq28 in a normal female. Hum Genet. 1982;61(1):60–62. doi: 10.1007/BF00291334. [DOI] [PubMed] [Google Scholar]
  15. Nielsen K. B., Tommerup N., Poulsen H., Mikkelsen M. X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet. 1981;59(1):23–25. doi: 10.1007/BF00278849. [DOI] [PubMed] [Google Scholar]
  16. Popovich B., Vekemans M., Rosenblatt D., Monroe P. Fragile X. N Engl J Med. 1982 Jun 24;306(25):1551–1552. [PubMed] [Google Scholar]
  17. Steinbach P., Barbi G., Böller T. On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression. Hum Genet. 1982;61(2):160–162. doi: 10.1007/BF00274209. [DOI] [PubMed] [Google Scholar]
  18. Sutherland G. R. Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture. Am J Hum Genet. 1979 Mar;31(2):125–135. [PMC free article] [PubMed] [Google Scholar]
  19. Sutherland G. R. Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics. Am J Hum Genet. 1979 Mar;31(2):136–148. [PMC free article] [PubMed] [Google Scholar]
  20. Turner G., Till R., Daniel A. Marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med. 1978 Dec 28;299(26):1472–1472. doi: 10.1056/NEJM197812282992625. [DOI] [PubMed] [Google Scholar]
  21. Von Koskull H., Aula P. Nonrandom distribution of chromosome breaks in Fanconi's anemia. Cytogenet Cell Genet. 1973;12(6):423–434. doi: 10.1159/000130485. [DOI] [PubMed] [Google Scholar]
  22. Webb G. C., Rogers J. G., Pitt D. B., Halliday J., Theobald T. Transmission of fragile (X) (q27) site from a male. Lancet. 1981 Nov 28;2(8257):1231–1232. doi: 10.1016/s0140-6736(81)91470-7. [DOI] [PubMed] [Google Scholar]

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