A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata

R Friling; Y Yassur; D Abeliovich; B Biedner; A Galil; J Dagan; R Carmi

doi:10.3109/13816819509056915

A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata

Ophthalmic Genet. 1995 Jun;16(2):71-4. doi: 10.3109/13816819509056915.

Authors

R Friling¹, Y Yassur, D Abeliovich, B Biedner, A Galil, J Dagan, R Carmi

Affiliation

¹ Department of Ophthalmology, Soroka Medical Center of the Kupat Holim, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

PMID: 7493159
DOI: 10.3109/13816819509056915

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.

Publication types

Case Reports

MeSH terms

Chromosome Aberrations / genetics*
Chromosome Banding
Chromosome Deletion*
Chromosome Disorders
Chromosomes, Human, Pair 10 / genetics
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 3 / genetics
Coloboma / genetics*
Gene Rearrangement
Humans
Infant, Newborn
Male
Translocation, Genetic / genetics*
Uvea / abnormalities*