PHENOTYPIC EXPRESSION OF LETHAL CHROMOSOMAL-ANOMALIES IN HUMAN ABORTUSES

From anatomical and cytogenetic studies of 1500 spontaneous abortuses correlations were established between the phenotype and karyotype of the specimens. The criteria used to determine the phenotype were based on estimated developmental age and macroscopic and microscopic examinations of embryo and placenta. Main features were described permitting, on anatomic examination of the conceptus, diagnosis of genetic anomalies, and in some instances possibly assigning the type of chromosomal aberration: i.e., in monosomy X, triploidies, tetraploidies and some trisomies. Phenotypic expression at the cellular level was studied by morphometry of the placenta and by study of in-vitro growth characteristics of cells lines initiated from aneuploid embryos. Study of growth rate characteristics may reveal the basis for pathogenesis of developmental arrests.