All issues > Volume 34(11); 1991

Original Article

J Korean Pediatr Soc. 1991;34(11):1587-1592. Published online November 30, 1991.

A case of 11q deletion syndrome.

Hye Kyeong Nam¹, Rhee Choi¹, Chang Hwi Kim¹, Sang Jhoo Lee¹

¹Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea

Received: May 17, 1991;  Accepted: July 26, 1991.

Abstract

11q-syndrome is a rare chromosomal anomaly. We experienced a case of llq deletion syndrome in a female infant. It was diagnosed by clinical features and chromosomal study. She had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, anteverted nostril, small carp-shaped mouth, micrognathia, hypertrophic pyloric stenosis and ventricular septal defect. Chromosomal study showed partial terminal deletion of the long arm of chromosome 11, kar- yotypically depicted as 46, XX, del (11) (q23 -► qter). A brief review of the related literatures was also presented.

Keywords :11q deletion syndrome;Hypertrophic pyloric stenosis;Ventricular septal defect