Article
A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration.
Annales de genetique - 1 Jan 1998
Eggermann T, Kolin-Gerresheim I, Gerresheim F, Schwanitz G
Abstract excerpt
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.
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