All issues > Volume 37(9); 1994

Case Report

J Korean Pediatr Soc. 1994;37(9):1325-1329. Published online September 15, 1994.

A Case of 4p+ Syndrome

Souck Joong SJ Yoon¹, Sung Jin SJ Hong¹, Hyung Gu HG Jo¹, Dong Chul DC Park¹

¹Department of Pediatrics, Konkuk University College of Medicine, Chungju, Korea

Abstract

We experinced a case of 4p+ syndrome in male infant. He had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, lower anterior hair line, depressed nose, broad nasal bridge, bilateral complete cleft lip and palate, short neck, unusual position of fingers, ventricular septal defect and umblical hernia. He menifested growth and developmental retardation. Karyotype with banding revealed an extra shortarm of chromosome 4. The mother's karyotype was normal. His father and father's sister had an ranslocation between the short arm of chromosome 4 and the short arm ofchromosome 9; their karyotypes were 46, XY, t(4;9) and 46, XX, t(4;9), respectively. In this case, trisomy 4p was the result of parental balanced translocation. As this is the first case in Korea, it is worthwhile to report with reviewing literature.

Keywords :4p+, Balanced translocation