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Journal of the Korean Society of Neonatology ; : 71-75, 2009.
Article in Korean | WPRIM | ID: wpr-100141

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


Subject(s)
Animals , Humans , Infant, Newborn , Beak , Chromosomes, Human, Pair 9 , Ductus Arteriosus, Patent , Fingers , Heart Septal Defects, Ventricular , Hydronephrosis , Infant, Low Birth Weight , Intellectual Disability , Lip , Microcephaly , Nose , Pyloric Stenosis, Hypertrophic , Trisomy , Vena Cava, Superior
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