Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
Figure 1
Schematic of the chromosome 7 region encompassing the CNTNAP2 gene. (a) shows an ideogram of chromosome 7, together with the location of the CNTNAP2 gene. (b) shows the exonic organisation of the CNTNAP2 gene and the location and extent of the deletion detected in the proband (indicated by an asterisk), his brother and his mother, together with deletions reported by Gregor et al. [15] (patients reported as C5 and C6 with deletions of exons 2-3 and 3-4, resp.), and Mefford et al. [16] (patient reported as K034 with a deletion of exons 2–4; coordinates taken from Figure 2 of this publication), which lie in the same region of the CNTNAP2 gene. The images presented here are taken from the UCSC genome browser (http://genome.ucsc.edu/).
