Fig. 2.

Copy number variation at the 7q36.3 locus. a Array CGH detected a complex rearrangement involving duplication, triplication and deletion in two fetuses. This variant is also presented in mosaic state in the father. The fragments A-E have different copy number values: A (3×; green), B (4×; blue), C (3×; brown), D (2×; orange) and E (1×; purple). b qPCR in fibroblasts confirmed the copy number values in all three fetuses. A′ and E′ fragments are copy number neutral up- and downstream of the complex rearrangement and were used as control. c qPCR in blood (grey squares) and fibroblasts (red 45° squares) samples from the healthy father showed different copy numbers for the A–D fragments, suggesting mosaicism. The E fragment is deleted in heterozygosis in both father’s blood and fibroblasts samples