Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation.

A balanced carrier mother with a t(2;9) (q31;p24) had a son with partial duplication of the long arm of chromosome 2(q31 leads to qter). A comparison of this child with other cases from the literature suggests that hypertelorism, a short nose, a broad nasal bridge, low-set ears, micrognathia, clinodactyly, a short neck and muscular hypotonia are characteristic phenotypic features of individuals having a duplication of 2q31 leads to qter.