Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smithsyndrome

We describe a girl with physical anomalies, accelerated skeletal maturation , failure to thrive, and respiratory difficulties consistent with a diagnos is of Marshall-Smith syndrome (MSS), Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH, Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skelet al maturation and a clinical picture resembling MSS. This raises the possib ility that the cause of MSS involves the q3 region of chromosome 2, Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We su ggest that karyotyping be undertaken with particular attention to the 2q3 r egion in patients with suspected MSS, It also would be prudent to assess bo ne age in all children with trisomy 2q, Am. J, Med, Genet. 85:185-188, 1999 , (C) 1999 Wiley-Liss, Inc.