Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)

We present the case of a 7-month-old girl with the karyotype 46,XX, der(13) t(2;13)(p23;p11.2).ish der(13)(wcp2+) de novo. Painting confirmed that the additional segment on 13p was of chromosome 2 origin, resulting in trisomy 2p23 -->2pter. The child had a prominent forehead with a flat hemangioma, depressed nasal bridge, protruding tongue, posteriorly angulated ears, esot ropia with poor abduction of the right eye, bilateral severe myopia (-5.5 D ), retinal hypopigmentation, foveal hypoplasia, and striking left optic ner ve hypoplasia. She also had pectus excavatum, a protruding abdomen with dia stasis recti, generalized hypotonia, delayed fine and gross motor developme nt, grade II reflux on the left side, and grade III-IV reflux on the right side. An EEG showed epileptiform discharges. Computed tomographic scan. of the brain showed decreased white matter, but magnetic resonance imaging sho wed normal results. Am. J. Med. Genet. 94:428-432, 2000. (C) 2000 Wiley-Lis s, Inc.