| Autor: |
van Roosmalen T; Child Neurology Center, University Hospital Nijmegen, The Netherlands., Smits AP, Thoonen GH, Hamel BC, Assman-Hulmans CF, Gabreels FJ |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1999 Apr 02; Vol. 83 (4), pp. 264-7. |
| DOI: |
10.1002/(sici)1096-8628(19990402)83:4<264::aid-ajmg6>3.0.co;2-r |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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