J Korean Pediatr Soc.
1982 Jul;25(7):743-747.
One Case of 13q-Syndrome
- Affiliations
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- 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.
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