[Importance of molecular diagnosis in the detection of healthy male transmitters of the fragile X syndrome].
The fragile X syndrome is attracting much interest because it is now recognized as the most common genetic cause of mental retardation after Down's syndrome. No effective treatment is yet available and the underlying biochemical defect is not understood. Genetic counselling is often difficult because, although it primarily affects males, one third of carrier females are also retarded. In addition, there is an important percentage of males that inherited the mutation and appear phenotypically normal. These observations have prompted extensive clinical, epidemiological and genetic studies. The more relevant points are reviewed in light of our results.
Tizzano Ferrari
E
E
Unitat de Genética Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona.
Gallano Petit
P
P
Baiget Bastus
M
M
D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D008297:Male; D008967:Molecular Biology; D010641:Phenotype; D012737:Sex Factors; D013030:Spain / Q000453:epidemiology
Importancia del diagnóstico molecular en la detección de varones sanos transmisores de síndrome del X-frágil.