Reference | Karyotype | Phenotype | Sex | Age (y) |
---|---|---|---|---|
Martin DesGroseilliers et al. [12], 2006 | 46,X,idic(Y)(q12)[226].ish idic(Y)(q12)(wcpY + ,SRY + + ,DYZ3 + +)/45,X[21]/47,X,idic(Y)(q12) × 2[3].ish idic(Y)(q12) × 2(wcpY + ,SRY + + ,DYZ3 + +) × 2 | Dysmorphic features, mild language delay, small uterus | F | 4 |
Willis, M. J. H et al. [13], 2006 | 45,X [14],/46,X, psu dic (Y)(q12)[5], (SRY + +) | normal | M | Infant |
James Pascual et al.[14], 2009 | 45,X[8]/46,X,idic(Y)(q12)[12] | Ambiguous genitalia | M | Infant |
Martin DesGroseilliers et al. [15], 2002 | 47,X,idic(Y)(q12) × 2[123]/45,X[9] | global psychomotor delay atrioseptal defect, radio-ulnar synostosis, bilateral fifth finger clinodactyly, premature closure of the anterior fontanel | M | 2.3 |
Melanie Beaulieu Bergeron et al.[7], 2011 | 46,X,idic(Y)(q12)[138]/45,X[36]/46,X,del(Y)(q12)[1] | pure gonadal dysgenesis | F | unknown |
Present study | 45,X[8]/46,X,idic(Y)(q12)[32] | Short stature, mircopenis, hypospadias and cryptorchidism | M | 8 |