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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: Hum Mutat. 2015 May 20;36(7):679–683. doi: 10.1002/humu.22792

Figure 1.

Figure 1

A. Pedigree of family Rf898, showing 3 affected individuals (898.202, 898.205 and 898.301) all carrying an 11 unit D4Z4 repeat array on chromosome 4qA (11A) and a partial loss of D4Z4 CpG methylation. The index case (arrow) and the individuals that have been analyzed on the SNP array (asterisk) are indicated. The key indicates the individual ID, the different methylation values (Delta1; Δ1, Delta2; Δ2 and the measured methylation; OM) and the D4Z4 repeat array type and sizes in units on both chromosomes 4 (4-1 and 4-2) B. Array plots of chromosome 18. A 1.2 Mb deletion in 18p11.32p11.31 was detected in patients 898.301 and 898.303 (arr[hg19] 18p11.32p11.31(1,829,674-3,039,186)x1). The deletion is marked by four panels showing from top to bottom: the Copy Number State, the Weighted Log2 Ratio, the Allele Peaks and the genes.

C. Pedigree of family Rf929, showing 2 affected individuals (929.201 and 929.204) both carrying an 13 unit D4Z4 repeat array on chromosome 4qA and a loss of D4Z4 CpG methylation. D. Array analysis of patient 929.201 presenting a 1.2 Mb deletion in 18p11.32p11.31 (arr[hg19] 18p11.32p11.31(1,844,188-3,039,186)x1)).