The fragile(X) syndrome: The mutation problem
โ Scribed by Jacobs, Patricia A. ;Sherman, Stephanie ;Turner, Gillian ;Webb, Tessa ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 362 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
In an atteqt to understand the nature of the mtational event leading to the fra(X) syndrw, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. isolated cases, and the reasons for this are discussed.
๐ SIMILAR VOLUMES
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
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.