J Korean Soc Neonatol.
2009 May;16(1):71-75.
A Case of Partial Trisomy 9q Derived from Paternal Chromosome
- Affiliations
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- 1Department of Pediatrics, School of Medicine, Catholic University of Daegu, Daegu, Korea. wootykim@cu.ac.kr
- 2Department of Ophthalmology, Dongguk University College of Medicine, Gyeongju, Korea.
Abstract
- There are few cases of partial trisomy of 9q, known as partial 9q trisomy syndrome with low birth weight, microcephaly, hypotelorism, beaked nose, small lip, long finger, hypertrophic pyloric stenosis, ventricular septal defect, and mental retardation. We report partial trisomy of 9q derived from a paternal chromosome, which has different features of other syndromes, including prematurity, atrial and ventricular septal defect, patent ductus arteriosus, persistent left superior vena cava, congenital hydronephrosis, and scrotal hernia
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