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  • Title: Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis.
    Author: Migita M, Migita M, Uchikoba Y, Orimo H, Shimada T, Shimada T, Matsumoto T, Hayakawa J, Fujino O, Saitoh M, Fukunaga Y.
    Journal: J Nippon Med Sch; 2003 Feb; 70(1):45-8. PubMed ID: 12646976.
    Abstract:
    We report a floppy infant with Werdnig-Hoffmann disease (spinal muscular atrophy: SMA type 1) and Klinefelter syndrome. After genetic counseling with parents, a genetic diagnosis using DNA from the infant's peripheral blood mononuclear cells was performed. The parents' deletion of exons 7 and 8 of the survival motor neuron (smn) gene and exons 4 and 5 of the neuronal apoptosis inhibitory protein (naip) gene were noted in the infant, so he was confirmed to have SMA type 1. The parents wanted to receive a prenatal diagnosis on the next pregnancy. However this genetic test is achieved by confirming that a specific band can not be detected by PCR. Therefore, this method should be applied with great care to prenatal diagnosis using chorionic villi, which may be contaminated with maternal tissue.
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