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An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal en...
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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: |
1989
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1015584/ https://ncbi.nlm.nih.gov/pubmed/2523486 |
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