Fragile X syndrome is the most frequent cause of familial mental retardation and the second chromosomal disorder in frequency after Down syndrome. Clinically it is characterized by the presence of mild to moderate mental retardation, facial dysmorphism long triangular face, and large winged ears and macro-orquidism. The expansion is associated with hypermethylation of the repetitive area and the adjacent CpG island, which entails a lack of gene transcription and an absence of protein FMRP , this absence being the ultimate cause of the syndrome. The CGG triplet is polymorphic in the general population ranging from 6 to 52 repeats. CGG repeats between 53 and set the pre-mutation which is not accompanied by clinical signs but it is very unstable and can grow to full mutation over CGG repeats when it is transmitted by a female to the next generation. The clinical signs of fragile X syndrome are highly variable depending on age and sex.
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Fragile X Syndrome
Cali, Colombia. California, USA. Universidad de Valle. A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis.
Autismo y síndrome del X-frágil
2015, Número 2
Fragile X syndrome FXS is the most frequent hereditary cause of mental retardation. It can be diagnosed by molecular genetic techniques, but clinical suspicion is made less likely by it variable expression. To assess the effectiveness of a six-item checklist in the preselection of children who are candidates for FXS genetic study. W e studied 70 male patients aged between 2 and 10 years with mental retardation of unknown cause. In all patients a checklist with six clinical criteria mental retardation, history of familial mental retardation, long face, large ears, autistic-like behaviour, and attention deficit disorder with hyperactivity measured from points was applied and molecular genetic studies using polymerase chain reaction and Southern-blot were performed. The most accurate diagnostic model was the association of mental retardation, attention deficit disorder with hyperactivity, large ears and a history of familial mental retardation followed by long face and autistic-like behaviour.
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