Figure 5
Identification of complex rearrangements. (A) Complex rearrangement in the DMD gene: duplication of exons 61–62, duplication of exons 65–67, triplication of exons 68–79. (a) CGH array. (b) Confirmation by real-time PCR of exons 63, 67 and 68. (c) Genealogical data. Tested women are indicated by an asterisk. The complex rearrangement was stably transmitted. (B) Triplication of the MECP2 gene embedded within a duplication in a male patient with severe encephalopathy. (a) CGH array. The log2 ratios (indicated as log2 R) from 0.822 to 1.393 indicated a hemizygous triplication of a 82-kb region that includes the entire MECP2 gene, embedded within a duplicated region of 329 kb involving several other genes. (b) Confirmation of the triplication by real-time PCR of exons 3 and 4 of the MECP2 gene. Dup C, duplicated control; N, normal control; P, patient.
