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

Muna Al-Saffar, Emmanuelle Lemyre, Robert Koenekoop, Alessandra M.V. Duncan, Vazken M. Der Kaloustian

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

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 bridget protruding tongue, posteriorly angulated ears, esotropia with poor abduction of the right eye, bilateral severe myopia (-5.5 D), retinal hypopigmentation, foveal hypoplasia, and striking left optic nerve hypoplasia. She also had pectus excavatum, a protruding abdomen with diastasis recti, generalized hypotonia, delayed fine and gross motor development, 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 showed norreal results. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)428-432
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume94
Issue number5
DOIs
Publication statusPublished - Oct 23 2000
Externally publishedYes

Keywords

  • 2p23→2pter
  • De novo pure partial trisomy 2p
  • Eye abnormalities

ASJC Scopus subject areas

  • Genetics(clinical)

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