Familial Pericentric Inversion: Inv(4)(p16q12)

Abstract

Generally pericentric inversions do not produce clinical abnormality. The medical significance lies with the increased risk of generating unbalanced gametes. In our study we present two familial pericentric inversion cases with consecutive first trimester pregnancy losses and congenital malformations. The relationship between pericentric inversion carriage and consecutive abortions, and the importance of genetic counseling are discussed by the help of these two cases.