Abstract
In the pedigree reported here two apparently normal males may have transmitted the fragile X chromosome. Eighteen family members were examined cytogenetically. The fragile X was detected in a high percentage of cells from nine mentally retarded members of this family (six males and three females) and in one female obligate carrier. Four other obligate carriers showed no or only a few cells with the fragile X.
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Selected References
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- 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]
- 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]
- Gustavson K. H., Holmgren G., Blomquist H. K., Mikkelsen M., Nordenson I., Poulsen H., Tommerup N. Familial X-linked mental retardation and fragile X chromosomes in two Swedish families. Clin Genet. 1981 Feb;19(2):101–110. doi: 10.1111/j.1399-0004.1981.tb00678.x. [DOI] [PubMed] [Google Scholar]
- 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]
- Rhoads F. A., Oglesby A. C., Mayer M., Jacobs P. A. Marker X syndrome in an oriental family with probable transmission by a normal male. Am J Med Genet. 1982 Jun;12(2):205–217. doi: 10.1002/ajmg.1320120211. [DOI] [PubMed] [Google Scholar]
- Richards B. W., Sylvester P. E., Brooker C. Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res. 1981 Dec;25(Pt 4):253–256. doi: 10.1111/j.1365-2788.1981.tb00115.x. [DOI] [PubMed] [Google Scholar]
- 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]
- Sutherland G. R. Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives. Hum Genet. 1979;53(1):23–27. doi: 10.1007/BF00289445. [DOI] [PubMed] [Google Scholar]
- Turner G., Daniel A., Frost M. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr. 1980 May;96(5):837–841. doi: 10.1016/s0022-3476(80)80552-x. [DOI] [PubMed] [Google Scholar]
- 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]