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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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| Publicado no: | J Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1989
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015584/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2523486/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.3.198 |
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