19q13.33→qter trisomy in a girl with intellectual impairment and seizures

Rearrangements in chromosome 19 are rare. Among the 35 patients with partial 19q trisomy described, only six have a breakpoint defined by array. The 19q duplication results in a variable phenotype, including dysmorphisms, intellectual disability and seizure. In a female patient, although G-banding a...

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Detaylı Bibliyografya
Yayımlandı:Meta Gene
Asıl Yazarlar: Carvalheira, Gianna, Oliveira, Mariana Moysés, Takeno, Sylvia, Lima, Fernanda Teresa de, Meloni, Vera Ayres, Melaragno, Maria Isabel
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2014
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4288793/
https://ncbi.nlm.nih.gov/pubmed/25606462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2014.09.004
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