A partial trisomy of chromosome 1 in a family with a t(1q−;4q+) translocation

Abstract

A female infant with approximately one‐third of the terminal portion of the 1q chromosome arm attached to the end of a 4q arm (46,XX,4q+) is described. The proposita's mother, maternal grandfather and uncle are balanced translocation carriers 46,XX or XY,t(1q‐;4qf). The clinical findings were: elfin‐like facies, low set ears with large pinnae, and numerous cardiac anomalies. The proposita expired at eleven weeks of age.