A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted...

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Autors principals: Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2008
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2375880/
https://ncbi.nlm.nih.gov/pubmed/18471313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-4
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