SUMMARY: When two powerful rival families of the spacefaring merchant race called the Tizarin are to be joined through marriage, theU.S.S. Enterprise™ is chosen as the site for the wedding. Though Captain Picard is pleased by the happy duty, his pleasure is cut short by the arrival of the Federati
Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with lewy body parkinsonism
✍ Scribed by Hardy, John; P�rez-Tur, Jordi; Baker, Matt; Farrer, Matt; Crook, Richard; Hutton, Mike; Johnson, William G.; Gwinn, Katrina; Muenter, Manfred; Rocca, Walter A.; Maraganore, Demetrius
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 35 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980328)81:2<166::aid-ajmg8>3.0.co;2-u
No coin nor oath required. For personal study only.
✦ Synopsis
Genetic analysis of markers from chromosomes 4q21-23 and 17q21 in a family with apparently autosomal dominant Lewy body parkinsonism is presented. This analysis shows that the locus leading to this disease is not allelic with that previously shown to lead to Lewy body parkinsonism on chromosome 4 or to the locus on chromosome 17 leading to frontotemporal dementia with parkinsonism. A brief clinical comparison of this family with families showing linkage to these loci is presented. The data suggest that at least one other major genetic determinant for Lewy body parkinsonism remains to be identified. Am.
📜 SIMILAR VOLUMES
We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart de
We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)-(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date.
We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. Thi
Familial paragangliomas (PGL), or glomus tumors, are slow-growing, highly vascular, generally benign neoplasms usually of the head and neck that arise from neural crest cells. This rare autosomal-dominant disorder is highly penetrant and influenced by genomic imprinting through paternal transmission
We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micrope