Fig. 1

Results of CNV-seq and variant chromosomes. a Whole genomic copy number sequencing revealed deletion and duplication of X chromosome. b The result of X chromosome copy number shows the heterozygous duplicated long-arm q and the heterozygous deleted short-arm p. c Karyotype shows inv(9)(p11q13) pat and i(X)(q10). d A schematic representation of the i (Xq), and its cleavage/recombination site on one X chromosome, where the CLCN5 gene is located on the short arms of X chromosome