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KMID : 1189120110080010062
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대한의학유전학회지
2011 Volume.8 No. 1 p.62 ~ p.66
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14q32.33 Deletion Identified by Array-CGH in a 5-year Old-girl with Seizure
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Cheon Chong-Kun
Park Sang-Jin
Choi Ook-Hwan
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Abstract
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Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.
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KEYWORD
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14q32.33 deletion, Fluorescence in situ hybridization, Array comparative genomic hybridization
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