PARTIAL TRISOMY FOR 2Q IN A PATIENT WITH DIR DUP(2)(Q33.1Q35)

A 22 year old woman with partial trisomy for the long arm of chromosom e 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chrom osome studies were normal. To our knowledge this is the first report o f trisomy for this specific segment of 2q and only the sixth case of d e novo direct duplication of 2q, one of which was mosaic. Clinical fea tures include epicanthus, clinodactyly, scoliosis, broad, flat nasal b ridge, thin upper lip, long philtrum, and short neck.