Chromosome tetraploidy syndrome. 92.XXYY syndrome
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
A frequently lethal ploidy syndrome marked by the presence of four sets of chromosomes (92,XXYY or 92,XXXX) usually resulting in spontaneous abortions. Infants who survive usually exhibit mental retardation and multiple craniofacial, limb, cardiovascular, renal, and other variable malformations.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. There is presence of four sets of chromosomes (92,XXYY or 92,XXXX)