Figure 5. Complex Rearrangements at the 10q26 Locus.

(A) Schematic representation of chromosome 10q and illustration of the V3 pink barcode used to distinguish the 2 10q alleles (qA/B). The proximal 10q-specific region is identified by hybridization with a blue probe, with a combination of blue-pink-blue probe for the 10q26 locus and red-pink-blue for the 4q35 region as described.¹⁶ (B) Cis-duplication of the 10q26 region with 2 D4Z4 arrays of different sizes (38 RUs and 7.5 RUs) separated by a gap. The second repeated array is flanked by red probes. (C) Triplication of the D4Z4 region in 2 different cases (37-I₁ and 38-I₁). The 2 additional D4Z4 arrays are flanked by red probes. All 3 arrays are separated by a gap. The shortest D4Z4 array is not the most distal as observed for chromosome 4. (D) Presence of additional copies of the terminal telomeric probes in 2 cases, 33-I₁ with 3 probes (estimated size, 29–36 kb) and 35-I₁ with 9 probes (estimated size, 117–288 kb).