X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
Clin Genet
; 52(3): 155-61, 1997 Sep.
Article
en En
| MEDLINE
| ID: mdl-9377804
The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the L1CAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Sistema Nervioso Central
/
Ligamiento Genético
/
Discapacidad Intelectual
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Clin Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Bélgica
Pais de publicación:
Dinamarca