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. 2018 Jun 22;27(20):3488–3497. doi: 10.1093/hmg/ddy236

Figure 3.

Figure 3.

(A) Representative MC images of the chromosome 4q and 10q alleles identified in FSHD patient Rf975.3. The MC alleles are matching to the Southern blot results (B), with the largest chromosome 4 allele carrying a 6 D4Z4 units duplication. The other alleles have a standard composition according to Figure 2A. (B) Representative MC images of the duplication alleles identified in the FSHD1 and FSHD2 cohort. The upper 8 alleles have been identified in FSHD2 patients with a SPA > 20 units. The next duplication allele was found in SPA ≤20 units) FSHD2 patient (Rf844.1). Below three unusual 4qB alleles having an expansion of the inverted D4Z4 repeat unit are shown. These alleles were identified in FSHD1 patients. As a reference a MC image of a typical 4qB allele with a single (standard) inverted D4Z4 repeat unit is shown at the bottom. (C) Composition of the three main groups of duplication alleles (4A161S, 4A161L and 10A166) and one group of unusual 4qB alleles that have been identified.