- Case Report
- Genetics and Metabolism
- Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
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Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
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Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24. Published online November 30, 2016
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Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the... |
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- Original Article
- Effect of adenotonsillar hypertrophy on right ventricle function in children
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Jin Hwan Lee, Jung Min Yoon, Jae Woo Lim, Kyung Og Ko, Seong Jun Choi, Jong-Yeup Kim, Eun Jung Cheon
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Clin Exp Pediatr. 2014;57(11):484-488. Published online November 30, 2014
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Purpose Chronic upper airway obstruction causes hypoxemic pulmonary vasoconstriction, which may lead to right ventricle (RV) dysfunction. Adenotonsillar hypertrophy (ATH) is the most common cause of upper airway obstruction in children. Therefore, we aimed to evaluate RV function in children with ATH. MethodsTwenty-one children (male/female, 15/6; mean age, 92.3¡¾39.0 months; age range, 4-15 years) with ATH and 21 healthy age- and gender-matched... |
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