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KMID : 1189120210180020101
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대한의학유전학회지
2021 Volume.18 No. 2 p.101 ~ p.104
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A female patient with Xp21 gene deletion syndrome
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Kim Jung-Eun
Lee Hyun-Joo
Na Ji-Hoon
Lee Young-Mock
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Abstract
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Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.
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KEYWORD
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Xp21 contiguous gene deletion syndrome, Duchenne muscular dystrophy, Creatine kinase
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