- Case Report
- A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome
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Ki Hun Song, Jee Yeon Song, In Kyung Sung, Kyong Su Lee
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Clin Exp Pediatr. 1997;40(9):1303-1308. Published online September 15, 1997
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Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth
retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia.
This autosomal recessive disease should be differentiated from trisomy 18, which the second most
common multiple congenital malformation syndrome. It is therefore clear that the two syndromes
have certain features in common, the most consistent being craniofacial and limb abnormalities and
intrathoracic pathology. Therefore,... |
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- Original Article
- A Clinical Study of Tsutsugamushi Disease in Children
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Jee Yeon Song, Ji Whan Han, Sung Soo Hwang, Kyung Yil Lee, Kyong Soo Lee
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Clin Exp Pediatr. 1995;38(5):641-648. Published online May 15, 1995
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Purpose : Recently in Korea, there has been an increasing concern regarding Tsutsugamus-hi disease. This disease is increasingly reported in children. The purpose of this study was to c-onsider the possibility that Tsutsugamushi disease may be diagnosed as eruptive disease or F UO( fever of unknown origin)
Methods : We reviewed 17 clinically or serologically confirmed cases of Tsutsugamushi dis-ease from... |
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- Use of Fluorescent in Situ Hybridization to Evaluate the Number of Chromosomes in Buccal Smear Cells in Normal Newborn Infants
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Byoung Chan Lee, Jee Yeon Song, So Young Kim, Hyun Hee Kim, Seunghoon Han, Jong-In Byun, Wonbae Lee, Kyong Su Lee
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Clin Exp Pediatr. 1995;38(11):1470-1475. Published online November 15, 1995
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Purpose : The diagnosis for chromosomal anomality has been made by obtaining cells in metaphase from peripheral blood and fresh tissue culture. But this method is difficult to perform because somewhat invasive and necessary time for cell culture and staining(48-72hr). Recently, the method to find numerical abnormalities in, autosome and sex chromosome of adult buccal mucosal smear by FISH was... |
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