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Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

BACKGROUND: The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed pren...

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Detalles Bibliográficos
Autores principales: Kitsiou-Tzeli, Sofia, Manolakos, Emmanouil, Lagou, Magdalini, Kontodiou, Maria, Kosyakova, Nadezda, Ewers, Elisabeth, Weise, Anja, Garas, Antonios, Orru, Sandro, Liehr, Thomas, Metaxotou, Aikaterini
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635371/
https://www.ncbi.nlm.nih.gov/pubmed/19128450
http://dx.doi.org/10.1186/1755-8166-2-1