Thai Girl with Ring Chromosome 18 (46XX, r18)
Rosawan Sripanidkulchai MD*, Chanyut Suphakunpinyo MD*, Charoon Jetsrisuparb MD**, Saman Luengwattanawanich BSc***
Affiliation : * Ambulatory Pediatrics Unit, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen ** Dermatology Pediatrics Unit, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen *** Cytogenetic Unit, Department of Pathology, Faculty of Medicine, Khon Kaen University, Khon Kaen
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.
Keywords : Ring chromosome 18, Thailand, Pediatric, IgA deficiency, Mental retardation
