Higher limb asymmetry in deceased human fetuses and infants with aneuploidy

Abstract

Aneuploidies cause gene-dosage imbalances that presumably result in a generalized decreased developmental homeostasis, which is expected to be detectable through an increase in fluctuating asymmetry (FA) of bilateral symmetric traits. However, support for the link between aneuploidy and FA is currently limited and no comparisons among different aneuploidies have been made. Here, we study FA in deceased human fetuses and infants from a 20-year hospital collection. Mean FA of limb bones was compared among groups of aneuploidies with different prenatal and postnatal survival chances and two reference groups (normal karyogram or no congenital anomalies). Limb asymmetry was 1.5 times higher for aneuploid cases with generally very short life expectancies (trisomy 13, trisomy 18, monosomy X, triploidy) than for trisomy 21 patients and both reference groups with higher life expectancies. Thus, FA levels are highest in groups for which developmental disturbances have been highest. Our results show a significant relationship between fluctuating asymmetry, human genetic disorders and severity of the associated abnormalities.