Chromosome 20p deletion syndrome. 20p minus syndrome. Monosomy 20q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the short arm of chromosome 20 with facial dysmorphism, cardiovascular abnormalities, growth and motor retardation, and recurrent respiratory infections. Deletion has been implicated in Hirschsprung syndrome (megacolon due to agangliosis) and autism.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the short arm of chromosome 20.