Skip to main content
. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: Hum Mutat. 2015 May 20;36(7):679–683. doi: 10.1002/humu.22792

Figure 2.

Figure 2

A. Chromosome content of individuals with 18p-. The black box around the chromosome ideogram across the top of the figure indicates the region of the chromosome shown below. The study number of each participant is aligned to the left of their data. The intact region of the chromosome is shown as individual grey bars. The breakpoint region is shown in darker grey and regions of duplication are shown as black. The vertical line indicates the location of the SMCHD1 gene. B. The methylation value measured at D4Z4 for control individuals (disomic 18p), individuals that carry an SMCHD1 mutation (FSHD2) and 18p- individuals that have a deletion of the SMCHD1 gene (18p-). C. Distribution of D4Z4 repeat array sizes on 159 independent 4A161 chromosomes in European control individuals (Lemmers et al., 2014; Schaap et al., 2013).