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Research Article
Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE).
  1. K Miyazaki,
  2. T Yamanaka,
  3. N Ogasawara
  1. Department of Pediatrics, Central Hospital, Aichi, Japan.

    Abstract

    High resolution banding analysis showed a de novo interstitial deletion, 46,XX, del(2) (q32.1q34), in a malformed and severely mentally retarded girl aged nine years. Biochemical studies showed that the proband had half normal activities of both erythrocyte isocitrate dehydrogenase (IDH1) and ribulose 5-phosphate 3-epimerase (RPE). It is suggested that the gene for RPE is located on the segment 2q32.1----q34.

    https://doi.org/10.1136/jmg.25.12.850

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