title: Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.
abstract: Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.
mesh_terms: D000015:Abnormalities, Multiple; D000311:Adrenal Glands / Q000002:abnormalities; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003103:Coloboma / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities; D006225:Hand; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D011123:Polyploidy; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome