Ectopia Cordis and Chromosome Errors

Abstract

Recently, Garson and associates1 suggested that ectopia cordis may be the result of chromosome errors. They reported a mosaic 45,X/46,XX female with ectopia cordis. The following case report supports the contention that chromosome errors may be important in the etiology of this lesion. However, since several of the reported patients have attained childhood and do not exhibit either multiple anomalies or mental retardation, all cases of ectopia cordis are probably not secondary to chromosome errors.