Chromosome 1p deletion syndrome. Chromosome 1p minus syndrome.
Incidence
A few cases are familial but most represent de novo deletions.
Clinical Characteristics
Deletion of the short arm of chromosome 1. Common symptoms include mental deficiency, malformed ears, short neck, bulbous nose, heart defects, finger abnormalities, and small deeply set eyes but the phenotype varies with the breakpoint.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype shows deletion of the short arm of chromosome 1.