A Case of Ring Chromosome 21 with Multiple Congenital Anomalies.
- Author:
Jun Hwa LEE
1
;
Eul Ju SEO
Author Information
1. Department of Pediatrics, College of Medicine, Ulsan University Hospital, Ulsan, Korea. ljh3643@cataegu.ac.kr
- Publication Type:Case Report
- Keywords:
Ring chromosome 21;
Developmental delay;
Multiple congenital anomalies
- MeSH:
Arm;
Brain;
Child, Preschool;
Cleft Lip;
Ear;
Foot;
Humans;
Hypertelorism;
Karyotype;
Korea;
Magnetic Resonance Imaging;
Male;
Microcephaly;
Optic Nerve;
Palate;
Phenotype;
Ring Chromosomes*;
Scoliosis
- From:Journal of the Korean Pediatric Society
2003;46(3):291-294
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.
