Trisomy for the Distal End of the Short Arm of Chromosome 3

Abstract

We report a patient with a chromosomal syndrome involving trisomy for the distal three-fifths of the short arm of chromosome 3. The major clinical featues include bilateral temporal indentation, prominent cheeks, a long and prominent philtrum, protruding middle portion of the upper lip, penile hypoplasia, and an increased number of whorls on digits.