An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root.
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.
Ivanovich
J L
JL
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Watson
M S
MS
Whelan
A J
AJ
D000328:Adult; D001018:Aortic Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004108:Dilatation, Pathologic; D005260:Female; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D012303:Ring Chromosomes