Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE).
作者信息
Miyazaki K, Yamanaka T, Ogasawara N
机构信息
Department of Pediatrics, Central Hospital, Aichi, Japan.
出版信息
J Med Genet. 1988 Dec;25(12):850-1. doi: 10.1136/jmg.25.12.850.
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.
摘要
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