However, FISH data combined with optical-mapping, an orthogonal technique (Fig. 3F–H), suggest that the 633 kb segment is inserted within the 102 kb tandem duplication, ~ 200 kb downstream of SOX3. Genomic insertions downstream of SOX3 have been reported to cause a number of variable conditions that include hypoparathyroidism and laryngeal abductor paralysis [23, 98]. Here, SOX3 is linked to laryngeal abductor paralysis-intellectual disability syndrome.