Chromosome 17 ring syndrome. Ring chromosome 17 syndrome
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Chromosome 17 in which both ends have been lost (deletion) and the broken ends have reunited to form a ring-shaped figure. Most patients exhibit dysmorphic facies, mild to moderate mental deficiency, retarded growth, café-au-lait spots, and seizures but some have no apparent malformations.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Ring chromosome 17