The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Nonspecific X‐linked mental retardation II: The frequency in British Columbia
Abstract
Data on nonspecific mental retardation in two or more sibs ascertained from the British Columbia Health Surveillance Registry are utilized to calculate the frequency of X‐linked mental retardation in the population of British Columbia (B.C.). In the 1950–1969 birth cohort there are 107 sibships with only males affected and 35 sibships with only females affected giving an excess of 72 male‐affected sibships. Family histories of the sibships with two or more mentally retarded males provide evidence that the mothers of the excess of male‐affected sibships are carriers of X‐linked mental retardation. Thus, a frequency of 1.83 per 1,000 males for X‐linked mental retardation and a carrier frequency of 2.44 per 1,000 females are calculated. This frequency can account for all of the excess of males in the population who are affected with nonspecific mental retardation. We estimate that seven to 19 X‐linked genes exist to cause nonspecific mental retardation, and that the frequency of the marker‐X chromosome, associated with X‐linked mental retardation in some families, may be 0.92 per 1,000 male births.
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Cites
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The rate of spontaneous mutation of a human gene
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Vogel, F., & Rathenberg, R. (1975) · Advances in Human Genetics · doi:10.1007/978-1-4615-9068-2_4 · Cited by 341
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site
Turner, G., Daniel, A., & Frost, M. (1980) · The Journal of Pediatrics · doi:10.1016/s0022-3476(80)80552-x · Cited by 247
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The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
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Cited by
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
Billuart, P., Bienvenu, T., Ronce, N., des Portes, V., Vinet, M. C., Zemni, R., Crollius, H. R., Carrié, A., Fauchereau, F., Cherry, M., et al. (1998) · Nature · doi:10.1038/31940 · Cited by 559
Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
Lubs, H. A., Stevenson, R. E., & Schwartz, C. E. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.018 · Cited by 248
Metadata
- Authors
- Herbst, D. S., & Miller, J. R.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1980-01
- Volume
- 7
- Issue
- 4
- Pages
- 461-469
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1985498074
- Cited by
- 268
- References
- 12
- FWCI
- 10.14
- Type
- journal article
- Language
- en
- Open access
- closed
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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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