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. 2019 Jan 21;7(3):e565. doi: 10.1002/mgg3.565

Table 1.

Molecular diagnosis of FSHD1 by SMOM

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
a

Molecules nU long enough to span the whole D4Z4 array;

b

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.