Autism in fragile X females
โ Scribed by Hagerman, Randi J. ;Chudley, Albert E. ;Knoll, Joan H. ;Jackson, Alfred W. ;Kemper, Melinda ;Ahmad, Razia ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 425 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
Prenatal diagnosis is now available to fragile X (fra[X]) syndrome families and has proven reliable when testing male fetuses. It has been reported that approximately one-third of heterozygous fra(X) females demonstrate mental impairment. Based on this, families usually continue pregnancies involvin
We report on a 15-year-old compound heterozygous young woman with fragile X syndrome who has a full mutation of 363 repeats on one X chromosome and a premutat i o n o f 1 0 3 r e p e a t s o n t h e o t h e r X chromosome. As predicted, subsequent testing demonstrated that her father carries a premu