Clinical and Experimental Pediatrics

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Original Article

Hye Kyeong Nam, Rhee Choi, Chang Hwi Kim, Sang Jhoo Lee

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

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 q Deletion Syndrome.

Y B Im, S B Park, B Y Pyun, J O Park, S J Lee, S Y Moon

Clin Exp Pediatr. 1989;32(2):239-243. Published online February 28, 1989

llq deletion syndrome is a rare chromosomal anomaly. The authors experienced a case of llq deletion syndrome with congenital glaucoma and infantile spasm in a female child. She showed delayed psychomotor development, flat occiput, hypertelorism, low set malformed ears, flat nasal bridge, short neck, simian line on right palm and throm. bocytopenia. Chromosomal study showed the deletion of the long arm of chromosme 11, karyotypically...

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