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. 1987 Nov;24(11):706–709. doi: 10.1136/jmg.24.11.706

Partial deletion 21: case report with biochemical studies and review.

N J Carpenter 1, J S Mayes 1, B Say 1, D P Wilson 1
PMCID: PMC1050352  PMID: 3430548

Abstract

An unbalanced translocation of a portion of the long arm of chromosome 21 to the short arm of chromosome 4 resulted in a partial deletion of chromosome 21 (pter----q21.05) and in the loss of the telomere of 4p. The phenotype of the child included asymmetrical facies, microcephaly, short stature, hypotonia, and psychomotor retardation associated with frequent infections. Normal SOD-1 activity in red blood cells and fibroblasts and normal cystathionine beta synthase activity in fibroblasts suggest that these gene loci are distal to 21q21.05.

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Selected References

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

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