Rett syndrome in monozygotic twins
β Scribed by Partington, M. W. ;Optiz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 326 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Deletions within chromosome band 22q11.2 are associated with a variety of conditions, although a simple genotype-phenotype correlation has not been established so far. Environmental factors, chance events, or a second hit theory were supported by two observations of monozygotic twins with 22q11.2 de
We have observed two female identical twins with Crouzon syndrome with an FGFR2 mutation. The twins were born to a 25-year-old Japanese mother and a 31-year-old father. No other member of the family had Crouzon syndrome. Monozygosity and concordance for Crouzon syndrome were established by DNA seque