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X‐linked mental retardation: A study of 7 families
Abstract
Seven families with X‐linked mental retardation (MR) have been studied clinically and cytogenetically. All affected males in six of the families were found to have a fragile site on Xq in a number of their peripheral lymphocytes. The fragile site was not seen in any of the affected males in the seventh family. The affected males in the six families with the fragile X had a syndrome characterized by a variable degree of MR, macro‐orchidism, a characteristic repetitive, jocular speech, normal body proportions, and large jaws and ears. The fragile X chromosome could only be detected in a proportion of female carriers and its frequency in females was found to be correlated with their mental status and to be inversely correlated with their age.
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Citations
Cited by
The marker (X) syndrome: a cytogenetic and genetic analysis
Sherman, S. L., Morton, N. E., Jacobs, P. A., & Turner, G. (1984) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1984.tb00830.x · Cited by 386
Self-citationAn analysis of autism in fifty males with the fragile X syndrome
Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., Braden, M., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230128 · Cited by 238
Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism
Schapiro, M. B., Murphy, D. G. M., Hagerman, R. J., Azari, N. P., Alexander, G. E., Miezejeski, C. M., Hinton, V. J., Horwitz, B., Haxby, J. V., Kumar, A., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320600603 · Cited by 85
Fragile sites, chromosomal lesions, tandem repeats, and disease
Mirceta, M., Shum, N., Schmidt, M. H. M., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.985975 · Cited by 30
Metadata
- Authors
- Jacobs, P. A., Glover, T. W., Mayer, M., Fox, P., Gerrard, J. W., Dunn, H. G., Herbst, D. S., & Optiz, J. M.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1980-01
- Volume
- 7
- Issue
- 4
- Pages
- 471-489
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2057256637
- Cited by
- 211
- References
- 0
- FWCI
- 15.98
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Jacobs, P. A., Glover, T. W., Mayer, M., Fox, P., Gerrard, J. W., Dunn, H. G., Herbst, D. S., & Optiz, J. M. (1980). X‐linked mental retardation: A study of 7 families. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320070408
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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