A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).

AUTOR(ES)

Higginbottom, M C

RESUMO

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.

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