Figure 4 | Genetics in Medicine

Figure 4

From: Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Figure 4

NDRG1 resides in an ~22 Mb region of absence of heterozygosity (AOH) shared by all affected individuals. The figure depicts single-nucleotide polymorphism array data for the entirety of chromosome 8. Illumina Genome Studio software predicted AOH regions >0.25 Mb (shaded in gray). All affected individuals in the pedigree share a minimum overlapping region of ~21.9 Mb of AOH that encompasses the NDRG1 gene locus. All unaffected family members lacked a predicted AOH region that overlapped this gene. The location of NDRG1 is depicted at the bottom of the figure, and its location for each individual in the pedigree is denoted with the red vertical line.

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