|
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... |