Number of samples | Per cent of total cases analysed by MC (n=1029) | Per cent of patients clinically affected with FSHD (n=426) | |
Total number of cases | 1029 | 100% | 41.4 |
Absence of contracted 4qA allele | 612 | 59.5% | 59.5 |
Absence of contracted 4q allele and presence of SMCHD1 mutation | 15 | 1.45% | 3.52 |
Contracted 4qA allele | 332 | 32.26% | 78 |
4qA cis-duplication | 22 | 5.4% | 5.16 |
4qA-10qA cis-duplication | 1 | 0.1% | 0.23 |
4qA mosaicism | 27 | 2.66% | 6.34 |
p13E-11 deletion | 7 | 0.7% | 1.64 |
Detection of a single 4q allele | 5 | 0.5% | 1.2 |
Presence of 3 10q alleles | 16 | 1.5% | 3.75 |
FSHD, facioscapulohumeral dystrophy.