All issues > Volume 44(6); 2001

Case Report

J Korean Pediatr Soc. 2001;44(6):683-686. Published online June 15, 2001.

A Case of 18 Ring Chromosome

Joong Hyun JH Bin¹, Moon Young MY Song¹, In Goo IG Lee¹, Won Bae WB Lee¹, Byung Churl BC Lee¹

¹Department of Pediatrics, College of Medicine, The Catholic University of Korea

Abstract

A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers. A 22-month-old girl was referred to our department of pediatrics because of ptosis and delayed development. Karyotype revealed ring 18 and dicentric ring 18 chromosome(46,XX,r(18)[45]/45,XX,-18[7]/46,XX,dic r(18)[3]). Fluorescent in situ hybridization with 18 centromeric probe showed 18 ring chromosome with 1 signal and 18 dicentric ring chromosome with 2 signals. We report a case of a ring 18 chromosome diagnosed by karyotype and fluorescent in situ hybridization.

Keywords :18 ring, Dicentric ring, Fluorescent in situ hybridization