Fragile (X) X-linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28)

Autor: Albert E. Chudley, Joan Knoll, John W. Gerrard, Lawrence Shepel, Ellen McGahey, Jo Anderson, John M. Opitz
Rok vydání: 1983
Předmět:
Zdroj: American Journal of Medical Genetics. 14:699-712
ISSN: 1096-8628
0148-7299
DOI: 10.1002/ajmg.1320140412
Popis: Members of eight Saskatchewan families with fragile (X) X-linked mental retardation were studied in an attempt to relate frequency to age and intelligence. The mean IQ of 37 affected men was 35 (range 10–66). The mean IQ of 32 carriers was 88 (range 57–119), and the mean IQ of 13 females who remain at risk for being carriers, have no affected sons, and who failed to demonstrate the fra(X) was 100 (range 78–126). We demonstrated a significant inverse relationship between age and frequency of the fra(X) in carriers and in affected males. However, we demonstrated a more highly significant inverse relationship between frequency of the fra(X) and IQ in carriers but to a lesser extent in affected males. Of 32 carriers, only 3 (9.4%) did not demonstrate the fra(X) after addition of 5-fluoro-2′-deoxyuridine (FUdR) to the folic acid and thymidine-reduced culture medium. From these data we would recommend that chromosome studies in individuals at risk for fra(X) X-linked mental retardation be carried out at the youngest age and that the addition of FUdR to culture medium is useful in carrier identification. It is clear that, in at least the carriers, a lower expression of the fra(X) is highly significantly correlated to higher intelligence.
Databáze: OpenAIRE
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