Department of Pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwangju, Korea.
J Korean Med Sci. 2012 Aug;27(8):948-52. doi: 10.3346/jkms.2012.27.8.948. Epub 2012 Jul 25.
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.
6 号环状染色体的临床特征包括中枢神经系统异常、生长迟缓、面部畸形和其他先天性异常。6 号环状染色体罕见，表现出各种表型。我们报告了一例 7 天大男性婴儿的镶嵌型 6 号环状染色体，该婴儿因大型动脉导管未闭（PDA）合并主动脉瓣和主动脉弓发育不良而被诊断为 PDA。这些表型以前并未报道过与 6 号环状染色体相关。在 PDA 结扎后，他的心力衰竭症状得到了缓解。在后续评估中，他表现出婴儿期生长发育不良和发育里程碑延迟。据我们所知，这是首例报道的韩国人存在 6 号环状染色体和血流动力学显著的 PDA。
