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 | 16.23Â 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 | 729Â kb | Xp21.2 | NR0B1 (DAX1) | PGD with testicular residues | Clitoromegary | None | aCGH | Ledig et al. [10] |
Case 3 | 771Â kb | Xp21.2 | NR0B1 (DAX1) | CGD | Female | None | SNP array | White et al. [18] |
Case 4 | 800Â kb | Xp21.2 | NR0B1 (DAX1) | Streak gonad, testicular tissue with atrophic tubules (right) | Ambiguous genitalia | N.D. | Custom MLPA | Barbaro et al. [22] |