Figure 1: Pedigree and clinical characteristics of the two patients.
From: A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome
(a) The family Pedigree. Black symbols denote affected individuals, and open symbols denote unaffected individuals. Genotypes are given for all family members who provided DNA. Del: the rearrangement removing exon 4 allele. -: the wild-type allele. (b) The facial features of the two patients. The top two photos show the proband (II:6); the bottom two photos show the affected sibling (II:10). (c) Fundus examination of the two patients. Figure PR and PL show optic nerve atrophy and retinitis pigmentosa in the right and left eye of the proband, respectively. Figure BR and BL show optic nerve atrophy in both eyes of the affected sibling. (d) The brain CT scan of the proband shows calcification of bilateral globus pallidus and subcortex of left frontal lobe, mild cerebral atrophy (widened sulcus and cleft, enlarged superatentorial ventricle) and cerebellar vermis dysplasia.
