Cargando…
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...
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 |
Ejemplares similares
-
Correction: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
por: Kitsiou-Tzeli, Sofia, et al.
Publicado: (2009) -
Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
por: Liehr, Thomas, et al.
Publicado: (2010) -
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics
por: Lagou, Magdalini, et al.
Publicado: (2014) -
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
por: Sifakis, Stavros, et al.
Publicado: (2012) -
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
por: Sheth, Frenny, et al.
Publicado: (2009)