We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins withcongenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with si
Behavior phenotype of the fragile X syndrome
โ Scribed by Enifeld, Stewart ;Hall, Wayne
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 381 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
โฆ Synopsis
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.
W e e x a m i n e t h e e v i d e n c e o n t h e r e l a t i o nship between the autistic and fra(X) syndromes, and briefly describe reported evidence of other aspects of behavior phenotypeofthis syndrome. We
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The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw