Fig. 4
From: Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
G-banding karyotyping, CMA and OGM results for case 4. A CMA identifying a 4.37-Mb terminal duplication of chromosome 2q37.3 (arr[GRCh38] 2q37.3(237,460,639–241,840,106) × 3) and a 4.39-Mb terminal deletion of chromosome 9p24.3p24.1 (arr[GRCh38] 9p24.3p24.1(208,455–4,600,613) × 1) in the fetus. B Karyotype showing a normal karyotype in the father of the fetus. C OGM indicating a cryptic translocation event between chromosomes 2 and 9 in the father of the fetus. D Schematic representation of the cryptic translocation between chromosomes 2q27.3 and 9p24.1 in the father of the fetus