Article
Phenotype of a patient with pure partial trisomy 2p(p23-->pter).
American journal of medical genetics - 23 Oct 2000
Al-Saffar M, Lemyre E, Koenekoop R, Duncan A M, Der Kaloustian V M
Abstract excerpt
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, esotropia with poor abduction of the right...
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