Author(s): Pfeiffer RA, Jnemann A, Lorenz B, Sieber E
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Abstract We report two cases with partial trisomy of 10q24.1-ter with concomitant deficiency of 7pter and 4qter, which share aplasia of the optic nerve and malformation of the anterior chamber. A review of published observations of partial trisomies of 10q showed that abnormalities of the eye, and particularly of the orbital region, are frequent, but ophthalmological studies are lacking. We conclude that our findings demonstrate a major effect of this chromosomal imbalance.
This article was published in Clin Genet
and referenced in Journal of Genetic Syndromes & Gene Therapy