The publication of 2 studies in this issueoftheJourna1 [Fisch, 1992; Reiss and Freund, 19921 on the relationship between the fragile X [fra(X)] and autistic syndromes provides an appropriate time to review the continuing debate about whether or not there is a relationshipbetween these 2 syndromes.
Fragile X syndrome: A hypothesis regarding the molecular mechanism of the phenotype
โ Scribed by Warren, Stephen T.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 413 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
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## Abstract Individuals with alleles containing 55โ200 CGG repeats in the fragile X mental retardation (__FMR1__) gene are premutation carriers. The premutation allele has been shown to lead to a number of types of clinical involvement, including shyness, anxiety, social deficits, attention deficit
A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200