Fig. 3
From: Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
Chromosome 22, selected area q11.23, genomic coordinates 23.654.163–24.959.827. Genome browser from University of California Santa Cruz was used to interrogate the duplicated region in the patient. The red square on the long arm of ideogram of chromosome 22 show the compromised region. Bottom region of the figure shown the localization of known genes in the duplicated region as is annotated in GENCODE version 29, only one transcript is represented by each gene. SMARCB1 is pointed by red arrow and SPECC1L is pointed by blue arrow