Abstract

An 8 year old girl with partial duplication of the short arm of chromosome 17 had a mosaic 46,XX,der(17)?del(17)(p12)dup(17) (p11.2p12).ish dup(17)(p11.2p13.3)(D17S 379x2, p53x2, D17S122x2, D17S29+) karyotype. The extent of mosaicism was 20% in lymphoblasts and 100% in fibroblasts. Fluorescence in situ hybridisation (FISH) proved invaluable in defining the abnormality precisely. The cytogenetic morphology by FISH assay ruled out a microdeletion of the Miller-Dieker syndrome (MDS) region. However, there was no MDS deletion but a duplication of this region. The duplication was extensive and included proximal p53 and D17S122, Charcot-Marie-Tooth type 1A (CMT1A), but not D17S29, the Smith-Magenis syndrome (SMS) region. This patient has the clinical features and generalised decreased peripheral nerve conduction velocity characteristic of CMT1A. The clinical management of paediatric cases of mosaic trisomy 17p cases would ential testing for CMT1A duplication. If duplicated, a decrease in nerve conduction velocity (NCV) of the peripheral motor neurones would be necessary to ensure the manifestation of CMT1A neuropathy. The parents of probands with delayed NCV should be counselled about the risk of CMT1A in later life.