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Table 2 46,XY DSD-associated duplications identified by molecular cytogenetic analyses

From: Submicroscopic copy-number variations associated with 46,XY disorders of sex development

Case Size of duplication Locus Affected DSD-causative gene Gonadal phenotype External genitalia Other clinical features Method Reference
Case 1 16.23 Mb Xp21.1-p22.2 NR0B1 (DAX1) CGD Female IUGR, facial dysmorphism, disturbance of pulmonary adaption, muscular hypertonia, hearing defect, mental retardation, short stature, macrocephaly aCGH Ledig et al. [10]
Case 2 729 kb Xp21.2 NR0B1 (DAX1) PGD with testicular residues Clitoromegary None aCGH Ledig et al. [10]
Case 3 771 kb Xp21.2 NR0B1 (DAX1) CGD Female None SNP array White et al. [18]
Case 4 800 kb Xp21.2 NR0B1 (DAX1) Streak gonad, testicular tissue with atrophic tubules (right) Ambiguous genitalia N.D. Custom MLPA Barbaro et al. [22]
  1. DSD, disorders of sex development; PGD, partial gonadal dysgenesis; CGD, complete gonadal dysgenesis; N.D., not described; MLPA, multiplex ligation-dependent probe amplification; aCGH, array-based comparative genomic hybridization; IUGR, intrauterine growth restriction.