Interstitial duplication oftheshort armof chromosome 2:report ofanewcaseandreview

montholdgirl wasreferred tous becauseofdysmorphic features andpsy- chomotorand growthretardation. On physical examination, shewasfoundto havemicrocephaly, openfontanelies, a prominent forehead, aflat occiput, hyper- telorism, sparseeyebrows, a smallnose withadepressed nasalbridge, abulging philtrum, athinupperlip, ahigharched palate, lowsetandposteriorly rotated ears, asmallmandible, ashortneckwitha lowhairline, and eyemalformations. High resolution chromosomeanalysis identified adenovodirect duplication of the2p21.00-.p24.2 region. Thephenotype ofdenovopartial trisomy 2pisdiscussed. (JMedGenet1997;34:783-786) p~~ ~~~~~~~~~~~~ -W...