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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2008
Aiheet:
Case Report
Linkit: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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