Chromosome 12q duplication syndrome. 12q+ syndrome. Trisomy 12q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Duplication of the long arm of chromosome 12 with craniofacial, skeletal, and cardiovascular abnormalities, sacral dimple, simian creases, and psychomotor retardation.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 12.