The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
Abnormalities, Multiple/*diagnosis/genetics/radiography ; Aorta, Thoracic/radiography ; Aortic Valve/ultrasonography ; Chromosome Disorders/*diagnosis/genetics ; Chromosomes, Human, Pair 6/genetics ; Ductus Arteriosus, Patent/*diagnosis/genetics/radiography ; Humans ; Infant ; Karyotyping ; Male ; Ring Chromosomes ; Tomography, X-Ray Computed