A Case of Partial Trisomy 9q Derived from Paternal Chromosome.

Jung,  Ji Eun; Song,  Eun Jeong; Park,  Hye Jin; Lee,  Kye Hyang; Lee,  Kyung Hoon; Choi,  Eun Jin; Kim,  Jin Kyung; Chung,  Hai Lee; Seo,  Eok Su; Kim,  Woo Taek

Case Report

Journal of the Korean Society of Neonatology 2009;16(1):71-75.
Published online May 1, 2009.

A Case of Partial Trisomy 9q Derived from Paternal Chromosome.

Ji Eun Jung, Eun Jeong Song, Hye Jin Park, Kye Hyang Lee, Kyung Hoon Lee, Eun Jin Choi, Jin Kyung Kim, Hai Lee Chung, Eok Su Seo, Woo Taek Kim

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.

아버지로부터 유래된 9번 염색체 장완의 부분 세염색체 1례

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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

Key Words: Trisomy 9q; dup(9)(q21.2q22.1); Prematurity; Congenital heart disease; Hydronephrosis; Scrotal hernia