A Case of 18 Ring Chromosome.
- Author:
Joong Hyun BIN
1
;
Moon Young SONG
;
In Goo LEE
;
Won Bae LEE
;
Byung Churl LEE
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University of Korea.
- Publication Type:Case Report
- Keywords:
18 ring;
Dicentric ring;
Fluorescent in situ hybridization
- MeSH:
Cryptorchidism;
Female;
Fingers;
Hand;
Humans;
Hypertelorism;
In Situ Hybridization, Fluorescence;
Infant;
Intellectual Disability;
Karyotype;
Male;
Microcephaly;
Obesity;
Pediatrics;
Ring Chromosomes*
- From:Journal of the Korean Pediatric Society
2001;44(6):683-686
- CountryRepublic of Korea
- Language:Korean
-
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.
