Most cases are linked to microdeletion of chromosome 22, at the long arm (q) at the 11.2 locus.Failure in embryologic development of the pharyngeal pouches, which is driven by TBX1, leads to absence or hypoplasia of the thymus and parathyroid glands.
22q11.2 deletion syndrome causes
Noonan syndrome causes
22q11.2 deletion syndrome pathophysiology
Down syndrome causes
Hurler syndrome causes
Fanconi syndrome causes
Down syndrome other imaging findings
Fragile X syndrome causes