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. 1982 Feb;19(1):71–73. doi: 10.1136/jmg.19.1.71

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

M C Higginbottom, J T Mascarello, H Hassin, W K McCord
PMCID: PMC1048824  PMID: 7069751

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Verjaal M., De Nef M. B. A patient with a partial deletion of the short arm of chromosome 3. Am J Dis Child. 1978 Jan;132(1):43–45. doi: 10.1001/archpedi.1978.02120260045012. [DOI] [PubMed] [Google Scholar]

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