A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature

一例具有独特临床表现的17q22-qter染色体三体病例报告及文献回顾

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Abstract

Terminal 17q trisomy is very rare but a recognizable genetic syndrome. The majority of cases reported are inherited from a balanced translocation carrier. This syndrome involves many organs and the severity ranges from mild to severe depending on the size of the 17q gain.

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