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Clinical study and haplotype analysis in two brothers with Partington syndrome by Suzanna G.M. Frints; Martine Borghgraef; Guy Froyen; Peter Marynen; Jean-Pierre Fryns is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Partington et al. [1988] described a three‐generation family (MRXS1, MIM \*309510, PRTS) with a syndromic form of X‐linked mental retardation (XLMR). The clinical features in 10 affected males included mild to moderate MR, dystonic movements of the hands, and dysarthria. After refinement, the PRTS locus was mapped to marker DXS989 (with maximum LOD score of 3.1) with flanking markers DXS365 and DXS28. Since then, no other patients with a similar phenotype have been described. We present a detailed description of the neurological symptoms and the disease history of two brothers with the clinical features of PRTS. Psychomotor development was delayed in both, and neurological features included mild to moderate mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands, without ataxia or spasticity of the legs. The symptoms were nonprogressive and extrapyramidal, and without cerebellar involvement. In general, behavior of the two brothers was friendly and quiet, although the elder brother had periods of depressed mood and outbursts of anger. Karyotypes and subsequent investigation of the subte

Who reads Clinical study and haplotype analysis in two brothers with Partington syndrome?

Author

Suzanna G.M. Frints; Martine Borghgraef; Guy Froyen; Peter Marynen; Jean-Pierre Fryns

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

2002

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)