Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies.
10.3346/jkms.2012.27.8.948
- Author:
Seung Jae LEE
1
;
Dong Kyun HAN
;
Hwa Jin CHO
;
Young Kuk CHO
;
Jae Sook MA
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwangju, Korea. youngcx@hanmail.net
- Publication Type:Case Reports
- Keywords:
Chromosome 6 Ring Syndrome;
Developmental Delay Disorders;
Hypoplasia of Aortic Arch;
Hypoplasia of Aortic Valve;
Ductus Arteriosus, Patent
- MeSH:
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
- From:Journal of Korean Medical Science
2012;27(8):948-952
- CountryRepublic of Korea
- Language:English
-
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.
