In this report, we present a patient with confirmed 22q11.2 duplication, occurring at the distal end, spanning 1.4 Mb. This unique patient has features of VACTERL (acronym for vertebral defects, anorectal malformation, cardiac defects, tracheo‐esophageal fistula (TEF), renal anomalies, and limb abnormalities) association (MIM #192350). His specific phenotype includes vertebral anomalies, esophageal atresia (EA) with TEF, ventricular septal defect (VSD), double aortic arch, and limb anomaly. This is the second case, to our knowledge, of VACTERL reported in association with 22q microduplication 6 and the only case to our knowledge that is specifically associated with EA/TEF and a vascular ring.
This report extends the phenotypic spectrum of 22q11.2 duplication syndrome and further supports a predisposition to VACTERL association. The 22q11.2 duplication syndrome (MIM #608363) is a disorder with varied features. Its phenotype overlaps 22q11.2 deletion syndrome, commonly known as DiGeorge/velocardiofacial syndrome (DG/VCFS; MIM #188400, #192430), but it is a separate and distinct syndrome. Manifestations of 22q11.2 duplication syndrome range from normal to mild‐moderate phenotypes. The spectrum includes milder manifestations such as learning disabilities, autism, motor impairment, hypotonia, and dysmorphic features, as well as more severe phenotypes with hearing loss and multiple congenital malformations including congenital heart defects, velopharyngeal insufficiency, cleft lip, and/or cleft palate 1, 2, 3, 4. The size of the duplication does not appear to correlate with a patient’s clinical phenotype 5.
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