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Year : 2021  |  Volume : 69  |  Issue : 1  |  Page : 181--183

An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome

1 Department of Pediatric Neurology, Izmir Tepecik Education and Research Hospital, Afyon, Turkey
2 Department of Pediatric Neurology, Izmir KatipCelebi University, Afyon, Turkey
3 Department of Pediatric Neurology, AfyonKocatepe University, Afyon, Turkey
4 Department of Genetics, Izmir Tepecik Education and Research Hospital, Izmir, Turkey

Correspondence Address:
Pinar Gencpinar
Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey, Cigli 35620, Izmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.310061

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The chromosome 22q11.2 region is highly susceptible to both microdeletions and microduplications that have been known to be responsible for multiple congenital anomaly disorders. We describe a patient of 22q11.2 duplication syndrome presenting with bilateral ptosis who has normal psychomotor development. Cranial magnetic resonance imaging and electromyography with repetitive nerve stimulation were normal. Chromosome microarray analysis was performed, and the patient was found to have a de novo 2.8 Mb duplication at 22q11.21. To our knowledge, bilateral ptosis and normal psychomotor development with 22q11.2 duplication syndrome has not been described. The 22q11.2 duplication syndrome should be considered in the differential diagnosis of ptosis. This case report contributes to an expanding clinical spectrum of patients with 22q11.2 duplication syndrome.


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Online since 20th March '04
Published by Wolters Kluwer - Medknow