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Title: Novel syndromic form of X-linked complicated spastic paraplegia
Authors: Claes, Stephan ×
Devriendt, Koenraad
Van Goethem, G
Roelen, L
Meireleire, J
Raeymaekers, Petra
Cassiman, Jean-Jacques
Fryns, Jean-Pierre #
Issue Date: Sep-2000
Series Title: American Journal of Medical Genetics vol:94 issue:1 pages:1-4
Abstract: This study presents a family with a syndromic form of X-linked mental retardation in which four males in two generations present severe mental retardation, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Multipoint linkage analysis with 24 highly polymorphic markers indicated two possible candidate regions: Xp21.1-Xq21.3 (flanking markers DXS1214 and DXS990) and Xq23-Xq27.1 (flanking markers DXS8020 and DXS984). The two known loci for X-linked mental retardation and spastic paraplegia are excluded: proteolipid protein in Xp21 and L1 cell adhesion molecule in Xq28. Therefore, the syndrome in this family appears to represent a previously undescribed X-linked spastic paraplegia-mental retardation syndrome.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Research Group Psychiatry
Translational Research in GastroIntestinal Disorders
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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