Stumm M, Reuter M, Mandon U, Brückner R, Wieacker P
Institut für Humangenetik des Universitätsklinikums Magdeburg.
Klin Padiatr. 1999 Jan-Feb;211(1):35-9. doi: 10.1055/s-2008-1043760.
We report on a 21 month old boy with congenital anomalies and a trisomy of the short arm of chromosome 4 as result of a maternal translocation 4/8 with meiotic 3:1 segregation. Karyotype/phenotype correlation is compared with other reported cases and discussed in a context of nearly pure trisomy 4p.