Fig. 3

Detection of exons 1–58 of the NF I gene in the proband and his parents. The results showed that the ratio of the copy number of exons 1–58 of the NF I gene in the proband to the normal control was about 0.5, indicating that there was a heterozygous deletion of exons 1–58 of the NF I gene. The ratio of the copy number of exons 1–58 of the NF I gene in the proband’s parents to the normal control was about 1, indicating that the copy number of exons 1–58 of the NF I gene in the proband’s parents was normal