Chromosome triploidy syndrome. 69,XXX syndrome. 69,XXY syndrome.
Incidence
Triploid Syndrome is an extremely rare chromosomal disorder. Infants surviving the neonatal period often have diploid/triploid mosaicism.
Clinical Characteristics
Babies with Triploid Syndrome usually are lost through early miscarriage. However, some infants have been born and survived as long as five months. Affected infants are usually small and have multiple birth defects. Those that survive are usually mosaic, meaning that some cells have the normal number of 46 chromosomes and some cells have a complete extra set of chromosomes. A frequently lethal ploidy syndrome in which three haploid sets of chromosomes (69,XXX or 69,XXY)) are present. The liveborn infants (some of whom die in infancy) are severely retarded and exhibit craniofacial abnormalities, facial clefts, eye defects, syndactyly, genital maldevelopment in males, and other anomalies.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Three haploid sets of chromosomes (69,XXX or 69,XXY)) are present.