- Original Article
- 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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Clin Exp Pediatr. 1991;34(11):1587-1592. Published online November 30, 1991
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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... |
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