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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Detaylı Bibliyografya
Asıl Yazarlar: Yakut, S, Mihci, E, Altiok Clark, O, Cetin, Z, Keser, I, Berker, S, Luleci, G
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Macedonian Science of Sciences and Arts 2012
Konular:
Case Report
Online Erişim: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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