Journal of the Korean Pediatric Society 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
llq 결손 증후군 1례
임양빈1, 박순복1, 편복양1, 박재옥1, 이상주1, 문신용2
1순천향의대 소아과학교실
2서울대학교 의과대학 산부인과학교실
Received: 2 September 1988   • Accepted: 1 October 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
Key Words: 11q deletion syndrome, Congenital glaucoma, Infantile spasm




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