Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
| Autor: | G.H.J. Thoonen, T. Van Roosmalen, Dominique Smeets, B. Van Den Helm, Edwin C. M. Mariman, Hannie Kremer, C. F. C. H. Assman-Hulsmans, Nine V A M Knoers, Arie P. T. Smits, B.C.J. Hamel, H.H. Ropers |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
Linkage (software) congenital hereditary and neonatal diseases and abnormalities Psychometrics business.industry education medicine.disease eye diseases Genetic determinism Developmental disorder Genetic linkage Medicine business Psychometric data Genetics (clinical) X chromosome Clinical psychology Lod scores |
| Zdroj: | American Journal of Medical Genetics. 85:290-304 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19990730)85:3<290::aid-ajmg21>3.0.co;2-h |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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