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Fig. 2 | Italian Journal of Pediatrics

Fig. 2

From: Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

Fig. 2

Clinical features of the case 2 (III-2). a. Prenatal B-ultrasound testing of the case 2 at 21 and 25 weeks revealed no abnormalities. b. Chromosome karyotype analysis showed a normal 46, XY karyotype. c. Fluorescence in situ hybridization (FISH) prenatally diagnosed 13/16/18/21/22/X/Y chromosomes in the case 2. d. The physical examination of the fetus aborted at 25 weeks’ gestation displayed female external genitalia, but with blind ending vagina. e. HE staining showed the fetus had epididymis tissue and testis tissue. f. Sequencing analysis of the SRD5A2 gene and the p.Q6X (c.16C > T) mutation were found. g. Sequencing analysis of the SRD5A2 gene and the p.H232R (c.695A > G) mutation were found. Red arrows indicate mutated nucleotide

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