Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

BACKGROUND: Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakp...

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Hlavní autoři: Haj, Roland, Jackson, Kelly, Torchia, Beth A, Shaffer, Lisa G, Bejjani, Bassem A, Gowans, Gordon C, Ruff, Michael E
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2009
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2654037/
https://ncbi.nlm.nih.gov/pubmed/19128483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-2
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