Fig. 2

CMA analysis of POC from Case 2, and representative G-banding karyotypes and FISH analysis of parental peripheral blood. a The blue bar indicates the 2q37.1-q37.3 duplication, which was 10.8 Mb. The segment contained 82 OMIM genes; b The red bar indicates a 13.5 Mb deletion (17p13.3-p12). The segment contained 177 OMIM genes; c and d G-banding karyotypes from metaphase peripheral blood lymphocytesof the Case 2 couples revealed normal karyotypes; e and f FISH results of the Case 2 couples with chromosome 2q subtelomeric probe (TEL2q SO, orange), chromosome 17p subtelomeric probe (TEL17p SG, green) and chromosome 17 centromeric probe (CEP6, aqua). Positive 2q 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 2. The centromeres of chromosome 17 are shown by the aqua signal