Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 114

Fragile X syndrome causes intellectual disability that ranges from mild to severe. It can be associated with autism spectrum disorder and physical anomalies. Affected males tend to have a much more severe phenotype, but females can be affected as well. Premature ovarian failure and fragile X‐associated tremor/ataxia, which causes late onset of Parkinsonism, can affect female and male carriers of fragile X premutation but not intermediate expansion (defined below) respectively. The incidence is 1 in 3600 males and 1 in 5000 females. The carrier frequency depends on family history of developmental delay and ranges from 1 in 86 to 1 in 257.