An Unbalanced Translocation Involving Partial Duplication of Chromosome 6 and Partial Deletion of Chromosome 10 in a Premature Infant with Tetralogy of Fallot

Abstract

Purpose: To report a case of simultaneous chromosome 10 partial deletion and chromosome 6 partial duplication in a preterm infant. Methods: This is a retrospective case report followed with clinical observation, echocardiogram, and genetic testing. Results: A neonate with Tetralogy of Fallot, clubbed feet, low set ears, and webbed neck was found to have chromosomal abnormalities that are consistent with unbalanced translocation between chromosomes 6 and 10, resulting in a partial duplication of chromosome 6 and partial deletion of chromosome 10. Discussion: Chromosome microarray testing in a patient with multiple congenital anomalies can facilitate rapid diagnosis and treatment with the potential to improve the management of complications and subsequent development.