All issues > Volume 33(8); 1990

Original Article

J Korean Pediatr Soc. 1990;33(8):1117-1122. Published online August 31, 1990.

A Case of Partial Trisomy 5q.

Hye Sun Choi¹, Gyu Young Jung¹, Eui Soo Park¹, Jin Sam Ro¹, Yong Gyun Back², Myung Su Yoo², Yul Hee Cho², Chun Kun Lee²

¹Department of Pediatrics, ST. Francisco General Hospital, Seoul, Korea
²Department of Genetics, Han Yang University, College of Medicine, Seoul, Korea

Received: February 28, 1990;  Accepted: May 31, 1990.

Abstract

Until now, about 19cases of partial trisomy 5q were reported. The authors experienced a patient of partial trisomy 5q who admitted due to bronchiolitis and had prominent forehead, microcephaly, ptosis, dysmorphic ear, cryptorchism, flat foot, psychomotor retardation, convulsion and so on, Brain CT scan showed brain 는trophy. Chromosome study showed 46, XY, dup (5q)(13-23) As this is the first case in Korea, it is worthwhile to report with reviewing literature.

Keywords :Partial trisomy 5q