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KMID : 1189120110080010058
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대한의학유전학회지
2011 Volume.8 No. 1 p.58 ~ p.61
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A Case of 17q22 with Interstitial Deletion
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Kang So-Yeon
Lee Beom-Hee
Kim Gu-Hwan
Choi Jin-Ho
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Abstract
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Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12?year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.
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KEYWORD
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Chromosome 17 interatitial deletion, Symphalagism, Chromosome disorder
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