title: Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE).
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.
authors.affiliation: Department of Pediatrics, Central Hospital, Aichi, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Miyazaki
authors.forename: T
authors.initials: T
authors.lastname: Yamanaka
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D002238:Carbohydrate Epimerases / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics / Q000378:metabolism; D007621:Karyotyping
chemical_list: D007521:Isocitrate Dehydrogenase; D002238:Carbohydrate Epimerases; C022553:ribulosephosphate 3-epimerase