Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.

Abstract

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.

• Authors: Seung Jae Lee, Dong Kyun Han, Hwa Jin Cho, Young Kuk Cho, Jae Sook Ma
• Journal: Journal of Korean medical science (J Korean Med Sci) Vol. 27 Issue 8 Pg. 948-52 (Aug 2012) ISSN: 1598-6357 [Electronic] Korea (South)
• PMID: 22876064 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, diagnostic imaging, genetics)
• Aorta, Thoracic (diagnostic imaging)
• Aortic Valve (diagnostic imaging)
• Chromosome Disorders (diagnosis, genetics)
• Chromosomes, Human, Pair 6 (genetics)
• Ductus Arteriosus, Patent (diagnosis, diagnostic imaging, genetics)
• Humans
• Infant
• Karyotyping
• Male
• Ring Chromosomes
• Tomography, X-Ray Computed
• Ultrasonography