Individuals carrying three copies of the 10q26 locus. We tested the presence of the short or long pLAM sequence associated with a 4qA sequence in most of the cases presented here (underlined). Data are presented in online supplementary figure 5.
| Patient ID | Gender | Clinical status | qA/qB | pLAM | 10q | SMCHD1 status |
| Family 1-II3 B2013-1312 | M | Affected | 4qA 5 RU 4qB 15 RU | 10qA 11 RU 10qA 56 RU | ND | |
| Family 1-III1 B2013-1313 | M | Affected | qA-5 RU qB 26 RU | Short 260 bp 4qA fragment | qA 7 RU qA 20 RU qA 54 RU | ND |
| Family 2-I3 27 176 | F | Affected | 4qA-4RU 4qA-22 RU Southern blot | ND | ||
| Family 2-II3 090416A Index case | F | Affected | qA-4 RU qB-13 RU | Short 260 bp 4qA fragment | qA-2 RU qA-33 RU qA-64 RU | ND |
| Family 2-II7 090415A | M | Affected | 4qA 4 RU 4qA 22 RU | 10qA 30 RU 10qA 30 RU | ND | |
| Family 3-I1 14 728 | F | Affected | 4qA-5 RU | Short 260 bp 4qA fragment | 10qA-1 RU 10q4-20 RU 10qA-29 RU | ND |
| Family 3-I2 14 727 | M | Non affected | 4qB-8RU | Long 330 bp 4qA fragment | ND | |
| Family 3-II1 1 20 723 F Index case | M | Affected | 4qA-5 RU 4qB-8 RU | Short 260 bp 4qA fragment | 10qA-2RU 10qA-7 RU 10qA-29 RU | ND |
| Family 3-II2 1 20 628 C | M | Non affected | 4qA-27 RU 4qA-29 RU | Short 260 bp 4qA fragment | 10qA-2RU 10qA-14 RU 10qA-29 RU | ND |
| Family 4-I2 1 00 726 C Index case | M | Non affected | 4qA-7 RU 4qA-27 RU | Short 260 bp 4qA fragment | 10qA-1 RU 10qA-5 RU 10qA-18 RU | ND |
| Family 4-I3 100 726B | F | Non affected | 4qA-45 RU 4qB-14 RU | Short 260 bp 4qA fragment | 10qA-1 RU 10qA-5 RU 10qA-28 RU | ND |
| 100 726A | M | 4qA-7 RU 4qA-39 RU | Short 260 bp 4qA fragment | 10qA-1 RU 10qA-19 RU 10q4-28 RU | ND | |
| Family 5-I1 15 571 | F | Non affected | 4qA-20–24 RU 4qB-55 RU | Short 260 bp 4qA fragment | 10qA-1–2 RU 10qA-39 RU | ND |
| Family 5-I2 15 572 | M | Non affected | 4qA-45 RU 4qB-38 RU | Short 260 bp 4qA fragment | 10qA-9 RU 10qA-17 RU | ND |
| Family 5-II1 15 573 Index Case | M | Affected | 4qA-21 RU 4qB-38 RU qA >20 RU | Short 260 bp 4qA fragment | 10qA-1–2 RU 10qA-15 RU 10qA-38 RU | WT |
| B2014-2538 | M | Affected | qA-42 RU qB-23 RU qA >20 RU | qA-1–2 RU qA-21 RU qA-33 RU | ND | |
| B2015-0851 | M | Affected | qA-36 RU qB-23 RU qA >20 RU | Short 260 bp 4qA 4qA | qA 1–2 RU qA-8 RU qA-44 RU | WT |
| B2013-1393 | F | Affected | qA 54 RU qA 54 RU qA > 20 RU | Short 260 bp +long 330 bp 4qA fragments | qA 1–2 RU qA 9 RU qA 32 RU | WT |
| B2016-1344 | M | Affected | 4qA 57 RU 4qB 22 RU qA >20 RU | Short 260 bp 4qA fragment | 10qA 1–2 RU 10qA 9 RU 10qA 63 RU | WT |
| B2016-2473 | M | Affected | 4qA 25 RU +Cis duplication 65 20 RU)+9 RU qA >20 RU | Short 260 bp +long 330 bp 4qA 4qA | 10qA 2–3 RU 10qA 4–5 RU 10qA 30 RU | WT |
| B2016-2376 | M | Affected | 4qA 39 RU 4qA 44 RU qA >20 RU | Short 260 bp 4qA fragment | 10 qA 1–2 RU 10qA 6–7 RU 10qA 9–11 RU | WT |