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Article

Thai girl with ring chromosome 18 (46XX, r18).

Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Jun 2006

Sripanidkulchai Rosawan, Suphakunpinyo Chanyut, Jetsrisuparb Charoon, Luengwattanawanich Saman

Abstract excerpt

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...

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PMID: 16850691

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