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.
[Two new cases of triploidy in premature liveborn infants (author's transl)] / Vecchi, C; Giovannucci-Uzielli, M L; Donzelli, G P; Seminara, S; Gori, A; Bini, A; Scarlato, C. - In: PEDIATRIA MEDICA E CHIRURGICA. - ISSN 0391-5387. - STAMPA. - 3:(1981), pp. 229-234.
[Two new cases of triploidy in premature liveborn infants (author's transl)]
VECCHI, CORRADO;DONZELLI, GIAN PAOLO;
1981
Abstract
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.
I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
