Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which cou...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Jorge, Paula, Garcia, Elsa, Gonçalves, Ana, Marques, Isabel, Maia, Nuno, Rodrigues, Bárbara, Santos, Helena, Fonseca, Jacinta, Soares, Gabriela, Correia, Cecília, Reis-Lima, Margarida, Cirigliano, Vincenzo, Santos, Rosário
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5946481/
https://ncbi.nlm.nih.gov/pubmed/29747568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0589-6
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