Ocular phenotype in partial trisomy 10 q.
A list of the ocular signs of the partial trisomy 10 q, which is drawn up according to the literature, is not satisfactory as almost only the external appearance of the eyes and their adnexa is considered. The authors report the case of a child still living, whose visual function could be evaluated by subjective and objective (electrophysiological) methods.
D000015:Abnormalities, Multiple / Q000235:genetics; D002906:Chromosomes, Human, 6-12 and X; D004596:Electroretinography; D005124:Eye Abnormalities; D006801:Humans; D010641:Phenotype; D014314:Trisomy; D014792:Visual Acuity