Table 1.
Summary of variants identified by SNP microarray
| Patient | MRKH Type | Clinical Phenotype | CNV | Size | Location |
|---|---|---|---|---|---|
| MRKH01 | II | Uterovaginal agenesis; moderate renal impairment | Duplication: 1q21.1 Deletion: 17q12 |
1.3 Mb 1.4 Mb |
145 394 955–146 762 959 34 815 551–36 220 373 |
| MRKH03 | II | Uterovaginal agenesis; unilateral renal agenesis | Duplication: 3q13.12q13.13 | 0.4 Mb | 107 822 130–108 214 218 |
| MRKH06 | I | Uterine agenesis | Duplication: 2q24.2 | 0.5 Mb | 160 822 423–161 294 055 |
| MRKH08 | II | Uterovaginal agenesis; fused vertebrae (C2–3), osteophytic foraminal narrowing (right C4–5, right C5–6, right C6–7). | LCSH: Chr4 | >5 Mb | 140 586 701–145 900 002 |
| MRKH10 | II | Uterovaginal agenesis; hearing impairment | Deletion: Xp22.33 LCSH: Chr11 |
0.15 Mb > 5 Mb |
167 755–182 276 101 153 216–107 428 694 |