All issues > Volume 45(9); 2002

Erratum

J Korean Pediatr Soc. 2002;45:0. Published online September 15, 2002.

A Case of Duplication 9p Syndrome(Partial Trisomy 9p)

Me Gyoung MG Lee¹, Young-Nae YN Roh¹, Young-Hoon YH Kim¹, Chung Sun CS Baek², Me Gyoung MG Sin², Jin J Lee¹, Pil-Sang PS Jang¹, Jin-Tack JT Kim¹, Kweon-Haeng KH Lee³, Kyung-Tai KT Whang¹

¹Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
²Sam Kwang Reference Laboratories, Seoul, Korea
³Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence Young-Hoon YH Kim ,Email: pedkyh@catholic.ac.kr

Abstract

Trisomy 9p syndrome was first described by Rethore, et al in 1970 and about 150 cases have been reported. Trisomy 9p has been reported as either partial or complete. The term "duplication 9p syndrome" instead of "trisomy 9p syndrome" is used since most of the reported patients had only partial duplication rather than the whole arm duplication of 9p. Duplication of 9p syndrome is characterized by growth and developmental retardation, microbrachycephaly, deep and wide set eyes with down-slanting palpebral fissures, "globular" nose, down-turned corners of the mouth, prominent apparently low-set ears, and short fingers and toes with small nails. A 10- month-old male was referred to our department of pediatrics because of hypotonia and delayed development. Karyotype revealed 46, XY, dup(9)(p12p24) by GTC-Banding. We report a case of a duplication 9p syndrome diagnosed by GTC-banding.

Keywords :deep and wide set eyes with down-slanting palpebral fissures