Chromosome 5p tetrasomy syndrome. 5p tetrasomy syndrome.
Incidence
Rare syndrome, sporadic.
Clinical Characteristics
Partial tetrasomy involving the short arm of chromosome with the clinical features similar to those seen in duplication of the short arm of chromosome 5, which include characteristic facies, hypotonia, acrodolichocephaly, upward palpebral slant, broad nose, deformed ears, and mental retardation.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Partial tetrasomy involving the short arm of chromosome 5. Supernumerary marker chromosome in fibroblasts was identified as i(5p).