A cytogenetic survey of 11,680 newborn infants

A cytogenetic analysis was conducted on 7849 males and 3831 female infants to determine the total incidence of chromosome abnormalities in the liveborn in 2 Edinburgh hospitals during the period January 1970-November 1972. 78 were found to have an abnormal chromosome constitution. The incidence of male sex chromosome abnormalities was .30% compared to .18% for females. The incidence of autosomal trisomies was 0.17% of euploid autosome structural rearrangements 9.19% and of aneuploid autosome structural rearrangements 0.04%. Results of 5 other similar surveys were also discussed (over 43000 babies in the combined series). The results from all the series are consistent and the combined data indicate that among consecutive liveborn babies 0.56% have a chromosome aberration detectable with non-banded techniques.