Table 1.
Patient ID | Diagnosis | Molecules examined | Complete molecules for diagnosis (number)a | Incomplete molecules (number)b | Inferred haplotype |
---|---|---|---|---|---|
10‐III | FSHD1 | 19 | 6A(10); 4A(5) | >10U(3); irregular(1) | 4A, 6A |
17‐III(A) | FSHD1 | 24 | 34B(9); 4A(6) | 4U(2); 1U, 19U, 22U, 26U, 33B, 35U, irregular (each 1) | 4A, 34B |
17‐III(B) | 112 | 4A(37); 34B(30) | 31U(5); 30U(4); 27U(3); 20U(3); 12U(5); 6U(7); 4U(2); 29U, 23U, 21U, 19U, 8U, 7U, 5U, 3U(each 1); irregular(8) | 4A, 34B | |
45‐IV | Normal | 32 | 33B(13); 29A(6) | 29U(2); 24U(2); 20U(1); 18U(2); 11U(1); 8U(2); irregular(3) | 33B, 29A |
66‐V | Normal | 63 | 17U+88 kb dup(18); 33B(24) | 14U(4); 10U(2); 7U(2); 6U(6); 21U, 17U, 11U, 4U, 3U, 1U, irregular(each 1) | 33B, 17U+88 kb dup(contains 6B) |
67‐V | Features of FSHD1 | 87 | 17U+88 kb dup(31); 29A(24) | 20U(2); 18U(2); 11U(2); 8U(2); 6U(13); 27U, 24U, 15U, 13U, 7U, 5U, 3U, 2U(each 1); irregular(3) | 29A, 17U+88 kb dup(contains 6B) |
68‐V(A) | Features of FSHD1 | 25 | 17U+ 88 kb dup(9); 29A(7) | 17U(2); 1U(2); 17U(2); 6U, 9B, 19U (each 1) | 29A, 17U+88 kb dup(contains 6B) |
68‐V(B) | 47 | 17U+88 kb dup(16); 29A(6) | 17U(7); 8U(2); 6U(7); 2U(2); 15U, 9U, 7U, 4U, 3U (each 1); irregular(2) | 29A, 17U+88 kb dup(contains 6B) | |
28‐III | FSHD1 | 17 | 4A(7); 17B(6) | 4U(2); 3U(1); irregular(1) | 4A, 17B |
58‐IV | FSHD1 | 28 | 4A(11); 15A(5) | 1U(2); 16A(2); 16U, 15U, 13U, 12U, 10U, 9U, 4U, irregular (each 1) | 4A, 15A |
59‐IV | Normal | 19 | 17B(10); 16A(4) | 4U, 5U, 9U (each 1); irregular(2) | 16A, 17B |
Molecules nU long enough to span the whole D4Z4 array;
Molecules nU not long enough to span the whole D4Z4 repeat array, broken downstream of the D4Z4 units. Thus (A) and (B) represent duplicate samples.