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Title: A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration. Author: Eggermann T, Kolin-Gerresheim I, Gerresheim F, Schwanitz G. Journal: Ann Genet; 1998; 41(4):205-8. PubMed ID: 9881183. Abstract: A male newborn with severe congenital abnormalities is described with a de-novo translocation 16;21 resulting in trisomy 16q. Clinical features were consistent with trisomy 16q cases reported in the literature. Molecular analysis indicate a formation mechanism of the rearrangement restricted to postzygotic mitosis. Therefore, a low recurrence risk for the parents could be delineated.[Abstract] [Full Text] [Related] [New Search]