2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject
Ring chromosome 6: Variability in phenotypic expression
β Scribed by Peeden, J. N. ;Scarbrough, P. ;Taysi, K. ;Wilroy, R. S. ;Finley, S. ;Luthardt, F. ;Martens, P. ;Howard-Peebles, P. N. ;Opitz, John M.
- Book ID
- 102700540
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 593 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AGβAA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset w
A retarded child with hypersarcosinemia and his family were studied by loading tests to determine the probable site of his defect. On the basis of his response to folate treatment, a partially-reversible defect in the formation of activated formaldehyde in the reaction catalyzed by sarcosine dehydro