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)

X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous females. Here we report the fine mapping of a breakpoint involved in a de novo X;autosomal balanced translocation (46,XX,t(X;2) (q22.3;p25.1)) previously described in a female with classical lissencephaly. We constructed a complete 490 kb BAC contig around the Xq22.3 breakpoint with 11 novel STSs and isolated three BAC clones spanning the breakpoint. This mapping information and BAC contig will be useful in the detailed characterisation of the XLIS gene and other contiguous genes which may also be involved in brain development or function.
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PMID:Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. 978 6