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
โฆ LIBER โฆ
A fragile X female with Down syndrome
โ Scribed by T. Arinami; I. Kondo; H. Hamaguchi; K. Tamura; T. Hirano
- Book ID
- 104704609
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 611 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0340-6717
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