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skos:definition |
JABL: 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.,NCI: A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects.,MSH: Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES.
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