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Constitutional trisomy 8 mosaicism syndrome: case report and review
Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with cla...
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| Pubblicato in: | J Pediatr Genet |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Georg Thieme Verlag KG
2013
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| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020980/ https://ncbi.nlm.nih.gov/pubmed/27625859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13069 |
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