Chromosome diploid/tetraploid mixoploidy syndrome. 46,XXYY/92,XXXXYYYY mixoploidy.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
A syndrome of diploidy (the state of having two full sets of homologous chromosomes) associated with tetraploidy (four sets of haploid chromosomes). Severe mental retardation, reduced peripheral muscle bulk, asymmetric growth deficiency, obesity later in childhood, seizures, pigmentary dysplasia of the skin, and other abnormalities are the main symptoms.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. 46,XXYY/92,XXXXYYYY mixoploidy.