All issues > Volume 40(3); 1997

Case Report

J Korean Pediatr Soc. 1997;40(3):408-412. Published online March 15, 1997.

A Case of Dup(3q) Syndrome

Yo Seop YS Pahn³, Mi Yeon MY Choi³, Young Ah YA Lee³, Woo Kap WK Chung³, Keun Young KY Lee², Sook Kyoung SK Oh¹

¹Center of Genetic, College of Medicine, Hallym University, Seoul, Korea
²Department of OB&GY, College of Medicine, Hallym University, Seoul, Korea
³Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea

Abstract

We have experienced a case of dup(3q) syndrome in the neonate who had a multiple congenital anomalies of hypertrichosis, hypertelorism, upslanting palpaberal fissures, anteverted nostrils, long philtrum, micrognathia, downturned corners of the mouth, highly arched palate, short, webbed neck, clinodactyly, rocker-bottom feet, dermal sinus. Cytogenetic studies showed a duplication 3q21→qter regions. Chromosome study of relatives is extremely important for counseling because only 25% of cases represented de novo duplications. We reported the case with the review of the associated literatures

Keywords :Dup(3q)syndrome, Multiple congenital anomalie