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A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata
R Friling1, Y Yassur, D Abeliovich
1Department of Ophthalmology, Soroka Medical Center of the Kupat Holim, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Ophthalmic Genetics
|June 1, 1995
Abstract:
A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome II is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.