Trisomy in the Distal End of the Long Arm of Chromosome 3

Abstract

• A patient had a trisomy for the distal portion of the third chromosome. The major clinical features were failure to thrive, profound mental retardation, dysmorphic head shape, a short nose, anteverted nares, long eyelashes, synophrys, characteristic mouth, and short stature. The similarities between the clinical picture and the Cornelia de Lange syndrome are very striking. (Am J Dis Child 133:727-730, 1979)