SHOX and Turner syndrome: There were 8 fetuses (0.06%, 8/14,051) with heterozygous deletion of Xp22.33 in CNVs with fragments ranging in size from 195 Kb to 2.2 Mb, which contained only the haploinsufficiency-sensitive pathogenic gene SHOX after excluding 317 cases of Turner syndrome and 7 cases combined with other genetic etiologies (Table 1).