A Case of Partial Long Arm Deletion in Chromosome 2 with Multiple Anomalies.

Lee,  Jong Uk; Lee,  Dong Hoon; Kim,  Chun Soo; Lee,  Sang Lak; Kim,  Jun Sik; Kwon,  Tae Chan; Ha,  Jung Sook; Lee,  Hee Jung

Case Report

Journal of the Korean Society of Neonatology 2002;9(2):220-225.
Published online November 1, 2002.

A Case of Partial Long Arm Deletion in Chromosome 2 with Multiple Anomalies.

Jong Uk Lee, Dong Hoon Lee, Chun Soo Kim, Sang Lak Lee, Jun Sik Kim, Tae Chan Kwon, Jung Sook Ha, Hee Jung Lee

¹Department of Pediatrics, College of Medicine, Keimyung University, Daegu, Korea. lsl@dsmc.or.kr
²Department of Laboratory Medicine, College of Medicine, Keimyung University, Daegu, Korea.
³Department of Diagnostic Radiology, College of Medicine, Keimyung University, Daegu, Korea.

복합 기형이 동반된 2번 염색체 장완 부분결실 1례

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Abstract

Partial long arm deletion in chromosome 2 is a rare disease in world-wide. The disease is characterized by multiple anomalies of craniofacial, extremities, cardiovascular system, hypotonia and mental retardation. We report a premature infant with long arm deletion of chromosome 2 who was diagnosed by clinical features and chromosomal analysis [46, XX, del(2)(q36-ter)]. She had multiple anomalies including microcephaly, frontal bossing, micropthalmia, low set ear, short webbed neck, horseshoe kidney, ventriculomegaly and cardiac anomalies of patent ductus arteriosus, atrial septal defect, ventricular septal defect, and pulmonary hypertension. A brief review of literature is included.

Key Words: Long arm deletion; Chromosome 2; Multiple anomalies