2003年
Genetic diagnosis of Werdnig-Hoffmann disease: A problem for application to prenatal diagnosis
Journal of Nippon Medical School
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- 巻
- 70
- 号
- 1
- 開始ページ
- 45
- 終了ページ
- 48
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1272/jnms.70.45
- 出版者・発行元
- Medical Association of Nippon Medical School
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.
- ID情報
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- DOI : 10.1272/jnms.70.45
- ISSN : 1345-4676
- PubMed ID : 12646976
- SCOPUS ID : 0037297507