TY - JOUR T1 - Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE). JF - Journal of Medical Genetics JO - J Med Genet SP - 850 LP - 851 DO - 10.1136/jmg.25.12.850 VL - 25 IS - 12 AU - K Miyazaki AU - T Yamanaka AU - N Ogasawara Y1 - 1988/12/01 UR - http://jmg.bmj.com/content/25/12/850.abstract N2 - 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. ER -