Figure 3
From: Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene
Segregation of a homozygous PTCHD3 deletion. The '-' denotes the deleted allele and '+' the non-deleted wild type allele. Females are denoted by circles and males with squares. Individuals with a diagnosis of ASD are black with the proband denoted by an arrow. The heatmap profiles below show individual probe intensities covering the deleted region (top, telomeric end) with white, pink, and red signifying copy numbers of 0, 1, and 2, respectively. The blue line shows the smoothed log2 ratio for the mother.