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Research Article
Partial deletion 21: case report with biochemical studies and review.
  1. N J Carpenter,
  2. J S Mayes,
  3. B Say,
  4. D P Wilson
  1. H Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, Oklahoma.

    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.

    https://doi.org/10.1136/jmg.24.11.706

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