title: A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration.
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.
authors.affiliation: Division of Clinical Genetics, University of Tübingen, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
authors.forename: I
authors.initials: I
authors.lastname: Kolin-Gerresheim
authors.forename: F
authors.initials: F
authors.lastname: Gerresheim
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008938:Mitosis; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics