[Two new cases of triploidy in premature liveborn infants (author's transl)].

Authors :: Vecchi C
Giovannucci-Uzielli ML
Donzelli GP
Seminara S
Gori A
Bini A
Scarlato C
Source :: La Pediatria medica e chirurgica : Medical and surgical pediatrics [Pediatr Med Chir] 1981 Mar-Jun; Vol. 3 (2-3), pp. 229-34.
Publication Year :: 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.

Subjects :: Bone and Bones abnormalities
Female
Genitalia, Female abnormalities
Genitalia, Male abnormalities
Humans
Hydranencephaly genetics
Infant, Newborn
Karyotyping
Male
Radiography
Skull diagnostic imaging
Abnormalities, Multiple genetics
Polyploidy

Language :: Italian
ISSN :: 0391-5387
Volume :: 3
Issue :: 2-3
Database :: MEDLINE
Journal :: La Pediatria medica e chirurgica : Medical and surgical pediatrics
Publication Type :: Academic Journal
Accession number :: 7343917

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