[Homogeneous triploidy in 2 premature infants (69 XXY)].
Two new cases of 69 XXY triploidy in live-born neonates are reported. As in 40 others cases of literature observed after 24 weeks of gestation, this chromosome abnormality was lethal. The clinical features are: a large posterior fontanelle, low set ears, syndactylies of hands and feet, and genital abnormalities in the presence of a 69 XXY karyotype. The first patient present a macrocytosis of red blood cells. Macrocytosis, large polymorphonuclear leukocytes and platelets can evoke the diagnosis of triploidy in a malformed newborn.
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007621:Karyotyping; D008297:Male; D011123:Polyploidy
Triploïdie homogène chez deux prématurés (69 XXY).