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Chromosomal translocations in MRKHS.
| Author, year | Translocation site | Onset | Phenotype | Refs. |
|---|---|---|---|---|
| Kucheria et al, 1988 | t(8;13) (q12;q14) | Unknown | MRKHS | (19) |
| t(8;13) (q12;q14) | Unknown | MRKHS, renal hypoplasia | (19) | |
| Amesse et al, 1999 | t(8;13) (q22.1;q32.1) | Sporadic | MRKHS, amastia, amelia, urine reflux, urinary incontinence | (20) |
| Williams et al, 2016 | t(3;16) (p22.3;p13.3) | Sporadic | MRKHS | (21) |
MRKHS, Mayer-Rokitansky-Küster-Hauser syndrome.
