1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features

1q21.1 duplication is a rare copy number variant accompanied with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described an Iranian 6-month-old infant with coarctation of aorta, seizure and dismorphic features. The parents and the sibling of the patient, were physically and psychologically normal. Whole genome oligo array CGH revealed a deletion 314.2 Kb on 1q21.1q21.1 and duplication of 1.25 Mb on 1q21.1q21.2. Up to date, few evidence are available for the cardiac abnormalities of the patients with micro deletion and microduplication on 1q21 have also coarctation of aorta.

Keywords:

1q21.1 Deletion , 1q21.1 Duplication , Congenital Heart Disease , Coarctation Of Aorta