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Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.
A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X....
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
1994
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049607/ https://ncbi.nlm.nih.gov/pubmed/8151646 |
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