Avtor/Urednik | Claes, S; Devriendt, K; D'Adamo, P; Meireleire, J; Raeymaekers, P; Toniolo, D; Cassiman, JJ; Fryns, JP | |
Naslov | X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies | |
Tip | članek | |
Vir | Clin Genet | |
Vol. in št. | Letnik 52, št. 3 | |
Leto izdaje | 1997 | |
Obseg | str. 155-61 | |
Jezik | eng | |
Abstrakt | 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. | |
Deskriptorji | ADULT BELGIUM CENTRAL NERVOUS SYSTEM CHILD CHILD, PRESCHOOL CHROMOSOME MAPPING DNA MUTATIONAL ANALYSIS DNA, COMPLEMENTARY DISEASE PROGRESSION FAMILY HEALTH GENES GENETIC MARKERS INFANT KARYOTYPING MENTAL RETARDATION PEDIGREE X CHROMOSOME |