[Two new cases of triploidy in premature liveborn infants (author's transl)].
Two liveborn triploid infants are described. The phenotype agrees, in the first case, with that reported in the other observations of the literature. In the second case, hydranencephaly was associated with ambiguous genitalia. Cytogenetic studies, made on cultivated leucocytes, showed triploid number of morphologically normal chromosomes; and constitution 69, XXY in the first case. Mosaicism were found in the second child, with constitution 46XY/69XXY. It is remarked the usefulness of an early diagnosis in order to the genetic counseling.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D006832:Hydranencephaly / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011123:Polyploidy; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging
Su due nuovi casi di sindrome da triploidia in prematuri plurimalformati.