Cytogenetic and molecular results. (a) G-banding partial karyotypes of the patient, indicating a terminal deletion of 2q, accompanying with a marker chromosome. (b) C-banding showing no centromeric heterochromatin. (c) Copy number variation analysis for individual SNP loci along chromosome 2 using Illumina Human OmniZhongHua-8 Beadchip. B Allele Frequency and Log R show a gain of 34,268,291 bp (nt. 208775856–243044147) in terminal end of 2q (Red arrow ). (d) FISH results of the patient. FISH using RP11-526 L8 (orange) at 2q37.3 as a test probe and RP11-119B15 (green) at 2p22.3 as a control probe, showing an orange signal and a green signal on each of the two copies of only one chromosome 2, while the other one lacking the orange signal. Two orange hybridization signals for test probe on the SMC corresponding to an inverted duplication marker. (e, f) FISH results of the parents showing one hybridization signal for each probe on the two normal chromosomes 2.