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)

As part of an integrated approach to DNA-linkage analysis in X-linked mental retardation (XLMR), 29 members of five families suspected of having XLMR underwent psychometric assessment. Mental retardation was confirmed in all participants. The range of mental retardation varied from mild to profound within and between families. In addition, these preliminary results indicated family-specific cognitive profiles in MRX45 and MRX46. The fact that two non-overlapping loci were involved provides strong evidence that specific cognitive profiles are linked to specific loci (genes) in mental retardation. We therefore recommend the application of standardised psychometric tests for the assessment of XLMR.
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PMID:Psychometric assessment of families with X-linked mental retardation. 1020 59

Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.
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PMID:Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 1039 46