title: Thai girl with ring chromosome 18 (46XX, r18).
abstract: Chromosomal anomalies occur in 0.4% of live births. Ring chromosomes have been found for all human chromosomes and when it is replacing a normal chromosome, it results as a partial monosomy. The phenotype often overlaps that seen in comparable deletion syndromes of the same chromosomes. In the present report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis media, aortic regurgitation with patent foramen ovale and immunoglobulin A deficiency.
authors.affiliation: Ambulatory Pediatrics Unit, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen Thailand. rosawan@kku.ac.th
authors.forename: Rosawan
authors.initials: R
authors.lastname: Sripanidkulchai
authors.forename: Chanyut
authors.initials: C
authors.lastname: Suphakunpinyo
authors.forename: Charoon
authors.initials: C
authors.lastname: Jetsrisuparb
authors.forename: Saman
authors.initials: S
authors.lastname: Luengwattanawanich
mesh_terms: D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004485:Eczema; D005183:Failure to Thrive; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D010033:Otitis Media; D010641:Phenotype; D012303:Ring Chromosomes; D013785:Thailand