Triploidy in man

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Abstract
A triploid male infant, born after 39 weeks gestation, is described. Malformations included severe physical retardation, syndactyly, microphthalmia with coloboma, macroglossia, hypospadias, a small penis and intra-abdominal testes. A 69, XXY karyotype was consistently found in cultures of peripheral blood, skin and muscle from left and right sides. No heterochromatic X chromosome was found in buccal smears and tissue cultures, as evidenced by cytological and autoradiographic studies. A few sex-chromatin-positive cells were found in the connective tissue of the amnion and cborion. The sex-chromosome complement of triploid conceptuses among the computed early human abortions shows a distribution of 1 XXX to nearly 2 XXY, with a very low frequency of XYY triploids. Statistical evaluation of these data reveals a near equal proportion of triploids of diandric and digynic origin if equal viability for all three sex chromosome complements is assumed. Should XYY zygotes be less viable, then the excess of the XXY variety can only be explained by an important predominance of diandric triploids. In the light of experimental data in animals, the role of pre- and postovulatory overripeness of ovocytes is discussed.

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