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Partial trisomy 6q (6q23 leads to qter), resulting from a non-balanced translocation 6/18, was detected in a child and his paternal uncle. Features of note in the uncle included micrognathia, scoliosis and mild mental retardation. The child presented a moderate hypertelorism, a flat nose bridge, carp-shaped mouth and minimal cutaneous syndactyly of the 2nd-3rd toes. These clinical signs have also been mentioned in the few cases of partial trisomy 6q described in the literature. In addition, our two patients present a cubital deviation of the fingers and, in the uncle, urinary tract malformations. The transmission of the 6/18 translocation in this family is discussed.
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