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Female relatives in families with the fragile X syndrome

✍ Scribed by Partington, M. W. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
742 KB
Volume
23
Category
Article
ISSN
0148-7299

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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