Familial case of may-hegglin anomaly associated with familial spastic paraplegia
β Scribed by Yukihisa Fujita; Tsuneo Fujii; Akira Nishio; Kazuhiko Tuboi; Katuhiko Tsuji; Mituo Nakamura
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 222 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0361-8609
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We describe a Brazilian family in which inheritance of a G106R mutation in the __SPG6__ gene (also know as __NIPA1__) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia
The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pr
A paracentric inversion of chromosome 5 was detected after RHG banding in a subject affected by Klinefelter's syndrome. The inversion was also observed in the patient's mother, and was confirmed by QFQ- and RBA-banding techniques. A second paracentric inversion affecting chromsome 7 was detected in