Fig. 2
From: Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
a Sanger sequencing of the proband and his parents showed that the proband was homozygous, the father heterozygous, and the mother wild-type. b Sketch map of the chromosome 3 copy number state for the proband from the CNVkit. The microdeletion is indicated by a red arrow with the copy number ratio at ââ1.0. c Chromosomal microarray analysis precisely mapping the deletion on 3q28q29 and covering the OPA1 gene