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KMID : 1100320170340010080
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Yeungnam University Journal of Medicine
2017 Volume.34 No. 1 p.80 ~ p.83
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Ankylosing spondylitis associated with balanced reciprocal X-1 translocation
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Kim Ryung-Hun
Lee Jung-Wook
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Abstract
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A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came to the hospital with a main cause of bilateral buttock pain, which began two years ago and worsened seven days ago. Ankylosing spondylitis with invasion of both sacral-iliac joints was observed. On magnetic resonance imaging, although the uterus was observed normally, an ovary was not observed. In a chromosome test, balanced reciprocal X-1 translocation of 46,X,t(X;1)(p10;q10) was diagnosed. Here, we report on the first case involving ankylosing spondylitis accompanied by balanced reciprocal X-1 translocation.
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KEYWORD
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Ankylosing spondylitis, Genetic translocation, Hypogonadism
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