All issues > Volume 35(3); 1992

Case Report

J Korean Pediatr Soc. 1992;35(3):422-427. Published online March 15, 1992.

A Case of 7q-Syndrome

Ja Hyun JH Park¹, Baek Gil BG Lee¹, Il Kyung IK Kim¹, Jung Sik JS Min¹, Chang Hee CH Choi¹

¹Department of Pediatrics, Seoul Adventist Hospital, Seoul, Korea

Abstract

7q-syndrome, although rare, is a well defined syndroime which usually arises de novo. Characteristic clinical features include severe growth and metal retardation, microcephaly, low birth weight, broad nasal bridge with bulbous nasal tip, large, low set ears and genital anomalies. We experienced a male newborn with clinical features suggestive of chromosomal anomaly which was confirmed to be a 7q-(q32-qter) syndrome by cytogenetic analysis. A brief review of literature was made.

Keywords :7q-syndrome, Chromosomal anomaly