Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6

Abstract
A case of trisomy for a portion of the long arm of chromosome 6, secondary to recombination of a maternal pericentric inversion, is presented. The pericentric inversion was documented in 3 generations of a family with a number of spontaneous abortions and perinatal deaths. (The proband in this study had trisomy 6 q and showed multiple congenital malformations].