A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).
A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype