A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration.
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.
Eggermann
T
T
Division of Clinical Genetics, University of Tübingen, Germany.
Kolin-Gerresheim
I
I
Gerresheim
F
F
Schwanitz
G
G
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