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KMID : 1189120140110010036
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대한의학유전학회지
2014 Volume.11 No. 1 p.36 ~ p.39
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Clinical characterization of a Korean case with 3p25 deletion
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Lee Hye-Jin
Kim Ja-Hye
Cho Ja-Hyang
Lee Beom-Hee
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.
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KEYWORD
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Chromosome 3, Congenital abnormalities, Intellectual disability
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