Table 1 Genotype characteristics of terminal 6q and interstitial 6q26q27 deletions
Subgroup | Cohort parent/literature | No. of foetuses | Age median* (range) years; months | Deletion size median (range) Mb | No. of OMIM genes median (range) | No. of HI genes median (range) |
|---|---|---|---|---|---|---|
Total terminal (n = 93) | 35/58 | 8 | 7;5 (0;0–57;0) | 6.45 (0.39–16.00) | 25 (3–62) | 4 (1–14) |
  Parent cohort | 35/0 | 1 | 4;6 (0;6–32;9) | 8.39 (0.76–16.00) | 29 (5–62) | 6 (2–14) |
  Literature cohort | 0/58 | 7 | 12;0 (0;0–57;0) | 4.14 (0.39–15.99) | 22 (3–62) | 3 (1–14) |
T-PSMB1 (n = 1) | 0/1 | 0 | 8;0 | 0.39 | 3 | 1 |
T-DLL1 (n = 23) | 3/20 | 2 | 17;0 (0;0–49;0) | 1.95 (0.53–2.66) | 10 (5–12) | 2 |
T-AFDN (n = 16) | 6/10 | 2 | 6;6 (0;6–57;0) | 4.01 (3.07–4.97) | 22 (14–24) | 3 |
T-PDE10A (n = 10) | 1/9 | 0 | 3;10 (0;1–25;0) | 5.89 (5.16–7.00) | 25 | 4 |
T-QKI (n = 7) | 3/4 | 0 | 7;11 (0;8–25;0) | 7.68 (7.37–7.84) | 28 (27–28) | 5 |
T-PRKN (n = 20) | 15/5 | 0 | 5;0 (0;4–32;9) | 8.57 (8.09–9.53) | 29 (29–30) | 6 |
T-MAP3K4 (n = 6) | 4/2 | 2 | 6;3 (4;10–14;9) | 10.14 (9.94–10.31) | 33 (31–35) | 7 |
T-R (n = 10) | 3/7 | 2 | 8;0 (0;6–37;0) | 12.12 (10.79–16.00) | 51.5 (40–62) | 11.5 (8–14) |
Total Interstitial (n = 11) | 3/8 | 0 | 6;0 (0;1–43;0) | 0.33 (0.04–3.08) | 2 (1–7) | 1 (1–3) |
  Parent cohort | 3/0 | 0 | 6;0 (2;2–15;4) | 0.33 (0.21–3.08) | 1 (1–5) | 1 (1–3) |
  Literature cohort | 0/8 | 0 | 10;2 (0;1–43;0) | 0.61 (0.04–1.18) | 4.5 (1–7) | 1 |
I-6q26 (n = 6) | 3/3 | 0 | 10;2 (0;1–19;0) | 0.23 (0.04–3.08) | 1.5 (1–5) | 1 (1–3) |
I-6q27 (n = 5) | 0/5 | 0 | 6;0 (1;6–43;0) | 0.97 (0.12–1.18) | 7 (2–7) | 1 |