Aneusomy by Recombination: A possible example involving the E18 chromosome

Abstract

SummaryA 5 year old female child is described with mental and growth retardation, prominent occiput, low-set ears, moderate mid-face hypoplasia, congenital heart defect, mal-set toes, and a relatively high frequency of whorls on the fingers. The abnormal E18 chromosome found is thought to represent a partial deletion of the long arm with trisomy for a small terminal segment of the short arm as the result of a pericentric shift followed by crossing-over within the inverted shifted segment. Thus this case may represent a further example of “aneusomy by recombination”.