Pfeiffer, R. A. and Jünemann, A. and Lorenz, Birgit and Sieber, E. (1995) Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter. CLINICAL GENETICS, 48 (4). pp. 183-187. ISSN 0009-9163, 1399-0004
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | TERMINAL DELETION; LONG ARM; CHROMOSOME-4; APLASIA OF THE OPTIC NERVE CHROMOSOMAL ABERRATION; MALFORMATION OF THE ANTERIOR CHAMBER; PARTIAL TRISOMY 10Q |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 04 Jan 2024 09:28 |
| Last Modified: | 04 Jan 2024 09:28 |
| URI: | https://pred.uni-regensburg.de/id/eprint/52284 |
Actions (login required)
 |
View Item |
