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Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome
Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv t...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Macedonian Science of Sciences and Arts
2012
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3776657/ https://ncbi.nlm.nih.gov/pubmed/24052725 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/v10034-012-0010-2 |
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