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KMID : 1101320070390020063
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Korean Journal of Clinical Laboratory Science
2007 Volume.39 No. 2 p.63 ~ p.67
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A Case of Multiple Congenital Anomalies due to Polymorphism of Chromosome 13
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Kim Yoon-Sik
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Abstract
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A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/ 45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.
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KEYWORD
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Polymorphism of chromosome, Chromosome 13, Multiple congenital anomalies
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