Ocular Manifestations of 22q11.2 Microduplication – Corrected Proof

Purpose: To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis.Design: Case series.Participants: Two male patients with this syndrome diagnosed with dup22q11.2.Methods: Medical records were reviewed. Duplication was detected in the oligo-single nucleotide polymorphism chromosomal microarray and duplicated genes within the segment where determined by literature and database review. Potential associations between the ophthalmologic manifestations and their physiopathology were investigated.Main Outcome Measures: Microarray results and identification of candidate genes within the duplicated segment.Results: Our patients demonstrate previously unreported findings of dup22q11.2, including Marcus Gunn jaw winking, Duane's retraction (Read more...)

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