J Pediatr Genet 2018; 07(03): 138-142
DOI: 10.1055/s-0038-1655754
Case Report
Georg Thieme Verlag KG Stuttgart · New York

22q11.2 Microduplication: An Enigmatic Genetic Disorder

Ranjit I. Kylat
1  Division of Neonatal-Perinatal Medicine and Developmental Biology, Department of Pediatrics, University of Arizona, Tucson, Arizona, United States
› Author Affiliations
Funding None.
Further Information

Publication History

01 February 2018

17 April 2018

Publication Date:
18 May 2018 (eFirst)

Abstract

Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variable. We describe a case of severe micrognathia, cleft palate, and Pierre-Robin sequence. A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11.2, which was confirmed postnatally. Although micrognathia has often been detected in this microduplication, the constellation of these findings has not been previously described.

Additional Note

Full consent was obtained from the patient's parents for the case report. Research and ethics board approval has been obtained.