A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hacettepe University Institute of Child Health
2009-12-01
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| Edice: | The Turkish Journal of Pediatrics |
| On-line přístup: | https://turkjpediatr.org/article/view/2367 |
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