All issues > Volume 32(2); 1989

Original Article

J Korean Pediatr Soc. 1989;32(2):239-243. Published online February 28, 1989.

11 q Deletion Syndrome.

Y B Im¹, S B Park¹, B Y Pyun¹, J O Park¹, S J Lee¹, S Y Moon²

¹Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
²Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea

Received: September 2, 1988;  Accepted: October 1, 1988.

Abstract

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 she was depicted as 46, XX, 11q- So, we report this case with a brief review of the literature

Keywords :11q deletion syndrome, Congenital glaucoma, Infantile spasm