A Case of Addition of Chromosome 3 associated with Multiple Anomalies.

Suh,  Min Ae; Lee,  Hyun Ju; Park,  Hye Jin; Lee,  Kye Hyang; Lee,  Gyeong 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 2007;14(2):237-242.
Published online November 1, 2007.

A Case of Addition of Chromosome 3 associated with Multiple Anomalies.

Min Ae Suh, Hyun Ju Lee, Hye Jin Park, Kye Hyang Lee, Gyeong 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, S. Korea. wootykim@cu.ac.kr
²Department of Opthalmology, Dongguk University College of Medicine, Gyeongju, S. Korea.

다발성 기형을 동반한 3번 염색체 첨가 1례

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Abstract

Chromosomal anomalies are associated with various congenital malformations and impaired development. The addition or duplication of chromosome 3 is a very rare chromosomal anomaly, in comparison to the deletion of chromosome 3. To date, only one case of the duplication of chromosome 3p has been reported, but an addition or duplication of chromosome 3p was not reported in Korea. We experienced a case of the addition of chromosome 3 in a male newborn infant who had suffered from multiple anomalies and congenital heart disease, atrioventricular septal defects and coarctation of the aorta. The karyotype of this patient was 46, XY, add(3)(p25). We report the case with the review of the associated literatures.

Key Words: Addition; Duplication; Chromosome 3; Anomaly