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Molecular and Clinical Characterization of a Recurrent Cryptic Unbalanced t(4q;18q) Resulting in an 18q Deletion and 4q Duplication.

Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to hav...

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Detaylı Bibliyografya
Asıl Yazarlar: Horbinski, Craig, Carter, Erika M., Heard, Patricia L., Sathanoori, Malini, Hu, Jie, Vockley, Jerry, Gunn, Shelly, Hale, Daniel E., Surti, Urvashi, Cody, Jannine D.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2008
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2584776/
https://ncbi.nlm.nih.gov/pubmed/18932219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32557
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