Table 1

Summary of molecular combing (MC) data for analysis of 1029 cases comprising 426 individuals diagnosed with FSHD.

Number of samplesPer 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.