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.
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Howard‐Peebles et al. (1980) studied this question.
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