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Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
BACKGROUND: Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the tissue-limited mosaicism of the isochromosome 12p [i(12p)]. There were a wide sp...
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| Publicado en: | Mol Cytogenet |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6717365/ https://ncbi.nlm.nih.gov/pubmed/31497069 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0449-x |
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