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Published on: August 20, 2019
An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root
J L Ivanovich1, M S Watson, A J Whelan
1Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Abstract:
Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. Cardiac lesions are rarely reported with this chromosome abnormality. We report on a 11-year-old boy with mosaic ring chromosome 6 and a dilated aortic root.
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