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KMID : 0438520090160010071
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Journal of the Korean Society of Neonatology
2009 Volume.16 No. 1 p.71 ~ p.75
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A Case of Partial Trisomy 9q Derived from Paternal Chromosome
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Jeong Ji-Eun
Song Eun-Jeong
Park Hye-Jin
Lee Kye-Hyang
Lee Gyeong-Hun
Choi Eun-Jin
Kim Jin-Kyung
Chung Hai-Lee
Seo Eok-Su
Kim Woo-Taek
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Abstract
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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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KEYWORD
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Trisomy 9q, dup(9)(p21.2p22.1), Prematurity, Congenital heart disease, Hydrone-P\phrosis, Scrotal hernia
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