Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

BACKGROUND: We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms. METHODS: A familial, combined genomic and cytogenetic approach was systematically applied to the parents of all patient...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412105/
https://ncbi.nlm.nih.gov/pubmed/25358766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0116-3
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