Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young girl with 46,XX,r(18)/46,XX/45,XX,-18 chromosome constitution is reported. She displays a slight degree of mental retardation. The line with the ring chromosome predominates in blood lymphocytes. In skin fibroblast culture the ring(18) line showed a constant decreasing trend, from 45% at the first passage, down to its disappearance at the 19th passage, where only 46,XX cells were observed. The child/mid parents' ratio of Peptidase A activity in red cells was 0.36. The Peptidase A activity in a fibroblast clone 46,XX,r(18) was 0.55 compared to the 46,XX line. These data suggest that the PEP A locus was lost in ring formation.
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PMID:A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping. 638 Aug 29