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, 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 normal results.
Al-Saffar
M
M
F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montreal, Quebec, Canada.
Lemyre
E
E
Koenekoop
R
R
Duncan
A M
AM
Der Kaloustian
V M
VM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D020223:Chromosome Painting; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005128:Eye Diseases; D005260:Female; D006130:Growth Disorders; D006331:Heart Diseases; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009666:Nose / Q000002:abnormalities; D010641:Phenotype; D011596:Psychomotor Disorders; D014314:Trisomy