Pathologic features of the eye in triploidy.
Triploidy is a cytogenetic abnormality characterized by 69 chromosomes rather than the normal 46 in each cell. It is one of the most common chromosomal aberrations reported in early spontaneous abortion. Estimates are that 17-20% of chromosomally abnormal abortuses (early) are triploid. 1,2 Although the majority are stillborn, at least 25 liveborn triploidics have been reported. 3-9 All were premature and most died in the first 6 hours;the longest survival was 2 months. 4 By contrast, a diploid/triploid mosaic (mixed cell lines) individual may survive to adulthood. Although ocular lesions are one of the components of the triploidy syndrome, reports of histologic findings are comparatively rare. 1,3,6,10,11 This prompted us to study the ocular pathology in another case of triploidy. Our results confirm and extend those previously described and emphasize the pattern of ocular abnormalities in this disorder.
D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D004314:Down Syndrome / Q000473:pathology; D005123:Eye / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011123:Polyploidy; D011247:Pregnancy; D014314:Trisomy