[Triploidy syndrome: a case report].
Triploidy is a complete extra set of chromosomes and results in a clinically recognizable lethal syndrome with hydatiform placental changes, severe intrauterine growth deficiency, cranial bone abnormalities, eye defects, malformed ears, syndactyly, genital anomalies, congenital heart defects and brain anomalies. Less severe are instances of diploid-tetraploid mixoploidy and patients are more likely to survive. The present report is another contribution to the knowledge of human triploidy: we describe a 69,XXY triploid male occurred to our observation.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome
La sindrome da triploidia. Descrizione di un caso.