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Background  A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems.    Results  Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability.    Discussion  The case indicates that genes within this interval, in particular dosage sensitive genes  SOX7  and  TNKS1,  and possibly  MIR124-1  and  MIR598  as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome.    Electronic supplementary material  The online version of this article (doi:10.1186/s13039-014-0094-3) contains supplementary material, which is available to authorized users.

8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp