A Case of Partial Long Arm Deletion in Chromosome 2 with Multiple Anomalies.
- Author:
Jong Uk LEE
1
;
Dong Hoon LEE
;
Chun Soo KIM
;
Sang Lak LEE
;
Jun Sik KIM
;
Tae Chan KWON
;
Jung Sook HA
;
Hee Jung LEE
Author Information
1. Department of Pediatrics, College of Medicine, Keimyung University, Daegu, Korea. lsl@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Long arm deletion;
Chromosome 2;
Multiple anomalies
- MeSH:
Arm*;
Cardiovascular System;
Chromosomes, Human, Pair 2*;
Ductus Arteriosus, Patent;
Ear;
Extremities;
Heart Septal Defects, Atrial;
Heart Septal Defects, Ventricular;
Humans;
Hypertension, Pulmonary;
Infant, Newborn;
Infant, Premature;
Intellectual Disability;
Kidney;
Microcephaly;
Muscle Hypotonia;
Neck;
Rare Diseases
- From:Journal of the Korean Society of Neonatology
2002;9(2):220-225
- CountryRepublic of Korea
- Language:Korean
-
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.
