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  • Title: Prenatal diagnosis of Werdnig-Hoffmann disease in China.
    Author: Feng J, Toshiyuki Y.
    Journal: Chin Med J (Engl); 2003 May; 116(5):673-5. PubMed ID: 12875676.
    Abstract:
    OBJECTIVE: To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. METHODS: Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8. RESULTS: The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated. CONCLUSION: This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.
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