A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).
Open Access
- 1 February 1982
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (1) , 71-73
- https://doi.org/10.1136/jmg.19.1.71
Abstract
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.Keywords
This publication has 1 reference indexed in Scilit:
- A Patient With a Partial Deletion of the Short Arm of Chromosome 3American Journal of Diseases of Children, 1978