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Research Article
Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
  1. N C Nevin,
  2. P J Morrison,
  3. J Jones,
  4. M M Reid
  1. Department of Medical Genetics, Queen's University of Belfast, Belfast City Hospital.

    Abstract

    At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12----p23.1).

    http://dx.doi.org/10.1136/jmg.27.2.135

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