Malformation Syndrome Associated with Triploidy – Further Chromosome Studies of the Patient and his Family

Abstract

The cytogenetical investigations so far carried out on a 3-year-old boy with a malformation syndrome associated with partial triploidy, suggest that in man triploid cells are at a disadvantage as compared to diploid cells. Apparently, such an increase in the number of the chromosomes is more serious in man as compared to lower vertebrates, e.g. salamanders. The deficiencies of human triploid cells are particularly obvious when such cells are subjected to an environment which induces an increased mitotic turnover as is the case during cell cultivation in vitro. The in vivo conditions which are similar to cultivation in vitro, occur in the blood forming organs during post-natal life. Cytogenetical investigations on the triploid cells in vitro suggest that a bone marrow with triploid cells should have been subject to mitotic disturbances of such a serious nature as to be incompatible with life. Consequently, it seems only logical that the examinations of cell cultures derived from bone marrow and peripheral blood leucocytes disclosed diploid cells with normal karyotypes, only.