Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities

BACKGROUND: Uniparental disomy (UPD) refers to an epigenomic abnormality in which both copies of, or a part of, a homologous pair of chromosomes are inherited from one parent. UPD arises via a number of mechanisms, including monosomic and trisomic rescue (in embryonic development), incomplete segreg...

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Detalles Bibliográficos
Autores principales: Yu, Chunjiao, Tian, Ying, Qi, Liang, Wang, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044887/
https://www.ncbi.nlm.nih.gov/pubmed/35473567
http://dx.doi.org/10.1186/s13039-022-00594-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044887/
https://www.ncbi.nlm.nih.gov/pubmed/35473567
http://dx.doi.org/10.1186/s13039-022-00594-1

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