Trisomy for the distal end of the short arm of chromosome 3: a syndrome.
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.
D000015:Abnormalities, Multiple; D002900:Chromosomes, Human, 1-3; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D010413:Penis / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy