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A case of 11q deletion syndrome.

Journal of the Korean Pediatric Society 1991;34(11):1587-1592.
Published online November 30, 1991.
A case of 11q deletion syndrome.
Hye Kyeong Nam, Rhee Choi, Chang Hwi Kim, Sang Jhoo Lee
Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
11q 결손 증후군 1례
남혜경, 최리, 김창취, 이상주
순천향대학교 의과대학 소아과학교실
Received: 17 May 1991   • Accepted: 26 July 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.
Key Words: 11q deletion syndrome, Hypertrophic pyloric stenosis, Ventricular septal defect


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