| A case of 11q deletion syndrome. |
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Hye Kyeong Nam, Rhee Choi, Chang Hwi Kim, Sang Jhoo Lee |
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Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea |
| 11q 결손 증후군 1례 |
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남혜경, 최리, 김창취, 이상주 |
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순천향대학교 의과대학 소아과학교실 |
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Received: 17 May 1991 • Accepted: 26 July 1991 |
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| Abstract |
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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.
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| Key Words:
11q deletion syndrome, Hypertrophic pyloric stenosis, Ventricular septal defect |
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