J Korean Soc Neonatol.
2002 Nov;9(2):220-225.
A Case of Partial Long Arm Deletion in Chromosome 2 with Multiple Anomalies
- Affiliations
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- 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.
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.
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