All issues > Volume 25(7); 1982

Case Report

J Korean Pediatr Soc. 1982;25(7):743-747. Published online July 31, 1982.

One Case of 13q-Syndrome.

C O Lee, T H Lee, D W Lee, S J Lee, D.W Lee, D.Y Kang, K.Y Choi, Je G Ghi

¹Department of Pediatrics, Soon Chun Hyang College, School of Medicine, Korea.
²Department of Clinical Pathology, Soon Chun Hyang College, School of Medicine, Korea.
³Department of Medicine, College of Medicine, Seoul National Univ., Seoul, Korea.
⁴Department of Pathology, College of Medicine, Seoul National Univ., Seoul, Korea.

Abstract

13 q-syndrome based on loss of specific band was first described by Bain and Gauld in 1963 and may be transmitted if one parents is translocation carrier. We experienced one case of 13p-syndrome with ercephalocele in newborn diagnosed by clinical feature, chromosomal study and autopsy findings. He had multiple anomalies such as microcephaly, hypertelorism, microphthalmia, absent thumbs, clinodactyly, equinovarus, bifid hypoplastic scrotum, microphallus, hypospadia, imperforated anus, anoperineal fistula and ventricular septal defect. A brief review of the related literatures was also resented.

Keywords :13q-syndrome