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Prevalence of the Fragile X Syndrome in an Institution for the Mentally Handicapped

Published online by Cambridge University Press:  29 January 2018

David A. Primrose
Affiliation:
Royal Scottish National Hospital, Larbert, Scotland FK5 4EJ (retired 31 December 1984)
Rabia El-Matmati
Affiliation:
Duncan Guthrie Institute of Medical Genetics, Glasgow
Elizabeth Boyd*
Affiliation:
Duncan Guthrie Institute of Medical Genetics, Glasgow
Christine Gosden
Affiliation:
MRC Clinical and Population Cytogenetics Unit, Edinburgh and Honorary Senior Lecturer in Human Genetics, King's College Hospital, London SE5 9RS
Marjorie Newton
Affiliation:
MRC Clinical and Population Cytogenetics Unit, Edinburgh
*
Correspondence 27 March 1985

Abstract

In an investigation to find the prevalence of the fragile X (Martin Bell) syndrome in a mental handicap hospital, chromosomal investigations were carried out in 196 males selected out of a total of 512, and also in 20 female patients who were related to some of the selected males. Fragile X cells were found in 41 of the males and two of the females; in 21 of the males it was associated with macro-orchidism. The overall prevalence in the hospital for males (8.0%) ranks this syndrome next in importance to Down's syndrome as a known cause for mental handicap.

Type
Papers
Copyright
Copyright © 1986 The Royal College of Psychiatrists 

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References

Blomquist, H. K., Gustavson, K. H., Holmgren, G., Nordensen, I. & Sweins, A. (1982) Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county. Clinical Genetics, 21, 209214.CrossRefGoogle Scholar
Fishburn, J., Turner, G., Daniel, A. & Brookwell, R. (1983) The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brother. American Journal of Medical Genetics, 14, 713724.Google Scholar
Froster-Iskenius, U., Felsh, G., Schirren, C. & Schwinger, E. (1983) Screening for fragile (X) (q) in a population of mentally retarded males. Human Genetics, 63, 153157.Google Scholar
Howard-Peebles, P. N. & Fin ley, W. H. (1983) Screening of mentally retarded males for macro-orchidism and the fragile X chromosome. American Journal of Medical Genetics, 15, 631635.Google Scholar
Jacobs, P. A., Mayer, M., Matsuura, J., Rhoads, F. & Yee, S. C. (1983) A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome. Human Genetics, 63, 139148.Google Scholar
Martin, J. P. & Bell, J. (1943) A pedigree of mental defect showing sex linkage. Journal of Neurology and Psychiatry, 6, 154157.Google Scholar
Nielsen, K. B., Tommerup, N., Dyggve, H. V. & Schou, C. (1982) Macro-orchidism and fragile X in mentally retarded males. Human Genetics, 61, 113117.Google Scholar
Opitz, J. M. & Sutherland, G. R. (1984) Conference report: international workshop on the fragile X and X-linked mental retardation. American Journal of Medical Genetics, 17, 594.Google Scholar
Richards, B. W. & Webb, T. (1982) The Martin-Bell-Renpenning syndrome. Journal of Medical Genetics, 19, 79.Google Scholar
Sutherland, G. R. (1982) Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites. American Journal of Human Genetics, 34, 452458.Google ScholarPubMed
Turner, G. & Jacobs, P. (1983) Marker (X)-linked mental retardation. Advances in Human Genetics, 13, 83110.CrossRefGoogle ScholarPubMed
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