Fig. 1

CMA analysis of POC from Case 1, and representative G-banding karyotypes and FISH analysis of parental peripheral blood. a The red bar indicates a 5.8 Mb deletion (6q27). The segment contained 22 OMIM genes; b The blue bar indicates the 17p13.3-p12 duplication, which was 11.2 Mb. The segment contained 171 OMIM genes; c and d G-banding karyotypes from metaphase peripheral blood lymphocytes of the Case 1 couples revealed normal karyotypes. e and f FISH results of the Case 1 couples with chromosome 6q subtelomeric probe (TEL6q SO, orange), chromosome 17p subtelomeric probe (TEL17p SG, green) and chromosome 6 centromeric probe (CEP6, aqua). Positive 6q signal indicated by the red arrow is found at the terminal short arm of the derivative chromosome 17, while positive 17p signal indicated by green arrow is found at the terminal of the derivative chromosome 6. The centromeres of chromosome 6 are shown by the aqua signals