A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result

BACKGROUND: Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. CASE PRESENTATION: Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), ha...

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Detalles Bibliográficos
Autores principales: Li, Dan, Wang, Yun, Zhao, Nan, Chang, Liang, Liu, Ping, Tian, Chan, Qiao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839220/
https://www.ncbi.nlm.nih.gov/pubmed/31699048
http://dx.doi.org/10.1186/s12881-019-0897-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839220/
https://www.ncbi.nlm.nih.gov/pubmed/31699048
http://dx.doi.org/10.1186/s12881-019-0897-5

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