Cargando…
Cytogenetic contribution to uniparental disomy (UPD)
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular) cytogenetic cha...
Autor principal: | Liehr, Thomas |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853554/ https://www.ncbi.nlm.nih.gov/pubmed/20350319 http://dx.doi.org/10.1186/1755-8166-3-8 |
Ejemplares similares
-
Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics
por: Eggermann, Thomas
Publicado: (2020) -
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
por: Riveiro-Alvarez, R., et al.
Publicado: (2007) -
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis
por: Chan, Alvin P., et al.
Publicado: (2019) -
Uniparental disomy is a chromosomic disorder in the first place
por: Liehr, Thomas
Publicado: (2022) -
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
por: Eggermann, Thomas, et al.
Publicado: (2017)