Fragile sites and chromosome breakpoints in constitutional rearrangements II. Spontaneous abortions, stillbirths and newborns

Abstract

Certain fragile sites may possibly predispose to [human] chromosome breakage and rearrangements in meiosis. To test this hypothesis, 894 breakpoints found in spontaneous abortions, stillbirths and livebirths were examined of which 165 (18.5%) were in bands with fragile sites. Compared to an expectation of 98 (11%), there was a significant excess of breakpoints in fragile site bands (P < 0.001). Together with data from amniocenteses, there is now evidence suggesting that certain fragile sites may be prone to fragility in meiosis.