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Title: X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies
Authors: Claes, Stephan
Devriendt, Koenraad
D'Adamo, P
Meireleire, J
Raeymaekers, P
Toniolo, D
Cassiman, Jean-Jacques
Fryns, Jean-Pierre #
Issue Date: Sep-1997
Series Title: Clinical Genetics vol:52 issue:3 pages:155-61
Abstract: 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.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Research Group Psychiatry
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
# (joint) last author

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