Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24)

Abstract

We report on a father and daughter with a partial 9p duplication, dup(9)(p22p24). Their phenotype, albeit mild, is characteristic of partial trisomy 9p. Fluorescence in situ hybridisation (FISH) was used to characterise further and confirm the G banding finding. This is the first reported instance of trisomy 9p occurring in two successive generations. The duplicated segment in these two patients is among the smallest segments reported. Comparison of our two patients and 144 reported patients with trisomy 9p (partial or complete trisomy) suggests that the 9p22 region may be responsible for the observed phenotype in 9p duplication cases.