A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions

A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

“…In addition, they presented with short stature, dysmorphic features, and intellectual disabilities, common clinical features in patients with 13q microdeletions. Córdova-Fletes et al12 reported a female child with 13q21.32q31.2 deletion involving EDNRB gene who presented with cutaneous and iris pigmentary abnormalities but without hearing loss and HSCR. Matute et al13 reported a similar mid-13q deletion syndrome involving EDNRB gene in a young adult with intellectual disability and heterochromia iridis along with bilateral deafness but without HSCR.…”