Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

Abstract

We report on two sibs with duplication of the segment 8q12----8q21.2 resulting from malsegregation of a maternal insertional translocation: [inv ins (5;8)(p13;q12q21.2)]. The mother also carries a reciprocal translocation [t(1;6)(q31;q5)], which was transmitted in the balanced state to the propositi and to a phenotypically normal son and daughter. The literature on two translocations occurring in one individual and on insertional rearrangements is reviewed in terms of reproductive risks to balanced carriers. The two affected infants have a previously undescribed partial duplication of an interstitial segment of 8q and a pattern of abnormalities distinct from those seen in other partial duplications of 8. These infants are reviewed with 78 other cases of partial duplications of chromosome 8 with regard to phenotype-karyotype correlations.