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Genetic screening and prenatal diagnosis for high risk families of Fragile X syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 653-656, 2018.
Article in Chinese | WPRIM | ID: wpr-688175
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of genetic testing for Fragile X syndrome (FXS).</p><p><b>METHODS</b>A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting.</p><p><b>RESULTS</b>Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister's baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range.</p><p><b>CONCLUSION</b>Genetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.</p>
Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study / Etiology study / Screening study Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study / Etiology study / Screening study Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article