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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| 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 |