A Case of Addition of Chromosome 3 associated with Multiple Anomalies

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.