Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population
| Autor: | Ilona Lind, Tiina Kahre, Elve Raukas, Katrin Õunap, Viljo Soo, Hiljar Sibul, Helen Puusepp |
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| Rok vydání: | 2008 |
| Předmět: |
Estonia
Male Pediatrics medicine.medical_specialty Adolescent Population DNA Mutational Analysis Mentally retarded Community health planning Community Health Planning Fragile X Mental Retardation Protein medicine Prevalence Humans education Child Full mutation Retrospective Studies education.field_of_study Mental Disorders Infant Retrospective cohort study medicine.disease Estonian language.human_language Fmr1 gene Fragile X syndrome Child Preschool Fragile X Syndrome Pediatrics Perinatology and Child Health language Female Neurology (clinical) Psychology Trinucleotide Repeat Expansion |
| Zdroj: | Journal of child neurology. 23(12) |
| ISSN: | 1708-8283 |
| Popis: | The aim of this study is to establish the prevalence of fragile X syndrome among Estonian mentally retarded and also among the entire children's population born during the years 1984-2005. The study group consisted of 516 patients (448 boys and 68 girls) who were screened for full mutations in the FMR1 gene during the period 1997-2006. Fourteen boys (2.7%) were found with full mutations of the total mentally retarded individuals tested (3.1% of mentally retarded boys); the full mutation was not detected among girls. The live-birth prevalence of full mutation among boys was 1:13 947. The overall live-birth prevalence of fragile X syndrome was 1:27 115. It was found that the prevalence of fragile X syndrome among mentally retarded individuals in Estonia was the same as in previous studies, but the live-birth prevalence of fragile X syndrome among boys was significantly lower. |
| Databáze: | OpenAIRE |
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