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Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell

Small supernumerary maker chromosomes (sSMC) and uniparental disomy (UPD) are rare, and a combination of both is rarely encountered. Accordingly, only 46 sSMC cases UPD have been reported. Despite of its rareness, UPD has to be considered, especially in prenatal cases with sSMC. Here, the authors re...

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Autors principals: Liehr, Thomas, Ewers, Elisabeth, Hamid, Ahmed B., Kosyakova, Nadezda, Voigt, Martin, Weise, Anja, Manvelyan, Marina
Format: Artigo
Idioma:Inglês
Publicat: SAGE Publications 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3201165/
https://ncbi.nlm.nih.gov/pubmed/21673185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1369/0022155411412780
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