Table 1 Patient and genotype characteristics of 6p terminal and subterminal deletion subgroups
Subgroupa | Cohort parent/literature | Sex female/male | Age in years; months median (range)b | Deletion size in Mb median (range) | No. of OMIM genes range (median) | No. of HI-genesc range (median) |
|---|---|---|---|---|---|---|
Patient A (n = 1) | 1/0 | Male | 34;0 | 0.92 | 4 | 0 |
Terminal B (n = 14) | 2/12 | 13/1 | 14;0 (n = 13) (2;1–53;0) | 2.21 (1.68–2.8) | 9–10 (9) | 2 |
Terminal C (n = 5) | 2/3 | 2/3 | 2;3 (n = 5) (0;10–20;0) | 3.31 (3.24–3.81) | 18–20 (20) | 4 |
Terminal D (n = 13) | 3/10 | 7/6 | 5;0 (n = 12) (0;3–15;7) | 5.54 (4.74–6.79) | 24–31 (28) | 6–7 |
Terminal E (n = 7) | 2/5 | 4/2 | 2;0 (n = 3) (0;1–2;4) | 11.45 (7.81–22.31) | 37–88 (55) | 10–24 (11) |
Total terminal (n = 40) | 10/30 | 26/13 | 5;8 (n = 34) (0;1–53;0) | 4.28 (0.92–22.31) | 4–88 (22) | 0–24 (5) |
Subterminal S (n = 19) | 3/16 | 10/7 | 7;5 (n = 19) (0;1–49;0) | 1.31 (0.005–5.13) | 1–27 (5) | 1–6 (2) |
Total terminal and subterminal (n = 59) | 13/46 | 36/20 | 6;6 (n = 53) (0;1–53) | 3.24 (0.005–22.31) | 1–88 (18) | 0–24 (4) |