Article
[Familial Bloom's syndrome associated with neuroblastoma].
Revista paulista de medicina - 1 Jan 2000
Antõnio J R, Fett-Conte A C, Thomé J A, Silva A E, Pozetti E M, Nakaoshi P C, Toledo E C, Leser P G, Solé D, Naspitz C K
Abstract excerpt
Bloom's syndrome (BS) is an autosomal recessive disease characterized by short stature, sensitivity to sunlight, and telangiectasic malar erythema. It is associated to chromosomal breakage, to primary combined immunodeficiency, and to a high incidence of neoplasias. The authors report the case of...
Topics
- Bloom Syndrome
- Child, Preschool
- Humans
- Immune Tolerance
- Karyotyping
- Male
- Metaphase
- Neuroblastoma
- Phenotype