Analysis of gross anatomical variations in human triploidy.
Three cases of human triploidy were dissected in detail to determine whether or not there are any specific patterns of morphologic variation associated with this form of polyploidy. No specific constellations of anatomic variation were observed. However, each body did have a greater than normal number of variations among muscles that tend to be variable in the normal population. Two bodies showed a marked increase in the size of the thigh muscles, two bodies had eyeballs that were larger than normal, and two bodies had anomalous attachments of the extraocular muscles. The sample size is not large enough to draw any specific conclusions concerning the pathogenesis of these variations. However, the findings do suggest that careful examination of additional specimens will be of value in providing further information about the genotype/phenotype relationships in human triploidy.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000002:abnormalities; D010641:Phenotype; D011123:Polyploidy