[Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication]

A child with multiple abnormalities and intersexual external genitals is presented. The child has a male karyotype with a partial duplication Xp. Using additionally methods of molecular genetics the SRY-region was detected. We reviewed the only few persons described in the literature with male karyotype and partial duplications Xp. There are similarities in phenotype including sex inversion or intersexual genitals if the duplication is localised in the region Xp 21-->Xp 22. Whether these affected patients represent a new syndrome is a moot point. We also found the aberrant X-chromosome in the mother of the child. In the present pregnancy of the mother there is, therefore, a risk of recurrence.