Author | Case # | Translocation | De novo | Ethnicity | Phenotype |
---|---|---|---|---|---|
Kucheria et al. [21] | 1 | 46,XX,t(12q;14q) | ? | Not stated | MRKH |
 | 2 | 46,XX,t(12q;14q) | ? | Not stated | MRKH; renal agenesis |
Amesse et al. [22] | 3 | 46,XXt(8;13)(q22.1;q32.1) in blood; Mosaic in 4:1 ratio in buttock fibroblasts for minor cell line of 46,XX, t(1;12)(q23.1;q24.3),t(6;6)(q15;p25) | Yes | Not stated | MRKH; congenital amastia/amelia,urinary reflux; urinary incontinence, megarethra |
Williams et al.; Current case | 4 | 46,XX, t(3;16)(p22.3;p13.3). | Yes | Caucasian Northern European | MRKH |