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22q13.32 Deletion and Duplication and Inversion in the Same Family: A Rare Occurrence

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplic...

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Main Authors: Jafri, Farooqua, Fink, James, Higgins, Rodney R., Tervo, Raymond
格式: Artigo
語言:Inglês
出版: International Scholarly Research Network 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3263574/
https://ncbi.nlm.nih.gov/pubmed/22389789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5402/2011/829825
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