Chromosome 8p mosaic tetrasomy. Mosaic tetrasomy 8p syndrome.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Partial tetrasomy involving short arm segments of chromosome 8 with rib and vertebral anomalies, congenital heart defects, and delayed psychomotor development.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Partial tetrasomy involving short arm segments of chromosome 8.