case_images: PMC11063372_01
case_images: Genetic analysis of the patient. (A) The patient has a compound heterozygote variant, in CYP21A2 c.518T>C, p. Ile173Asn in Exon 4 (pathogenic variant), c.1442T>C, p. Leu481Pro in exon 10 (novel likely- pathogenic variant) based on sequencing chromatogram/multiplex. Multiplex ligation dependent probe amplification (MLPA) shows two copies of the active gene. (B) Chromosomal microarray analysis shows a 1.4 Mb heterozygous deletion on 7q11.23 in the patient: arr[GRCh37] 7q11.23(72700524_74143060) x1. Blue arrows mean the mutation site.
case_images: fendo-15-1352552-g001.jpg
case_images: PMC11063372_01_fendo-15-1352552-g001.jpg
case_images: f1
case_images: Leu481Pro) in the CYP21A2 gene. ( Figure 1A ). The diagnosis of WS was confirmed through chromosomal microarray analysis with the CytoScan Dx Assay (Thermo Fisher Scientific., Santa Clara, CA, USA), which identified a 1.4-MB microdeletion in 7q11.23 ( Figure 1B ).