Human Intersex with Chromosome Mosaicism of Type XY/XO

Abstract

DURING the past year a number of reports have appeared in the literature concerning chromosomal aberrations discovered in human pathologic states.^{1 2 3 4 5 6 7 8 9 10 11} Most of these reports deal with conditions in which the chromosome number of the somatic cells has deviated from the normal human diploid number of 46. Thus, in mongolism a chromosome number of 47 with trisomy for one of the smallest acrocentric autosomes has been reported by several authors.^{1 , 2} In Klinefelter's syndrome a chromosome number of 47 has also been found,³ the abnormal number being due to the presence of an XXY sex-chromosome constitution. In cases of mongolism in . . .