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Case Report
Gastroenterology
Acute gastritis associated with Epstein-Barr virus infection in a child
Ji Mok Kim, Chun Woo Song, Kyu Sang Song, Jae Young Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S68-S71.   Published online November 30, 2016

Infectious mononucleosis is Epstein-Barr virus (EBV) inducing a self-limiting clinical syndrome characterized by fever, sore throat, hepatosplenomegaly, and generalized lymphadenopathy. Gastrointestinal symptoms of EBV infection are nonspecific and occur rarely. EBV inducing acute gastrointestinal pathology is poorly recognized without suspicion. Careful consideration is needed to diagnose gastric involvement of EBV infection including gastric lymphoma, gastric cancer, and gastritis. A few...

Neurology
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Clin Exp Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of...

Original Article
Utility of a multiplex reverse transcriptase-polymerase chain reaction assay (HemaVision) in the evaluation of genetic abnormalities in Korean children with acute leukemia: a single institution study
Hye-Jin Kim, Hyun Jin Oh, Jae Wook Lee, Pil-Sang Jang, Nack-Gyun Chung, Myungshin Kim, Jihyang Lim, Bin Cho, Hack-Ki Kim
Clin Exp Pediatr. 2013;56(6):247-253.   Published online June 21, 2013
Purpose

In children with acute leukemia, bone marrow genetic abnormalities (GA) have prognostic significance, and may be the basis for minimal residual disease monitoring. Since April 2007, we have used a multiplex reverse transcriptase-polymerase chain reaction tool (HemaVision) to detect of GA.

Methods

In this study, we reviewed the results of HemaVision screening in 270 children with acute leukemia, newly diagnosed at The...

Case Report
A Case of 18 Ring Chromosome
Joong Hyun Bin, Moon Young Song, In Goo Lee, Won Bae Lee, Byung Churl Lee
Clin Exp Pediatr. 2001;44(6):683-686.   Published online June 15, 2001
A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers. A 22-month-old girl was referred to our department of pediatrics because of ptosis and delayed development. Karyotype revealed ring 18 and dicentric ring 18 chromosome(46,XX,r(18)[45]/45,XX,-18[7]/46,XX,dic r(18)[3]). Fluorescent in situ hybridization...
Original Article
Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis
Ho Sung Kim, Yoon Sung Kang, Kyung Hyo Kim, Young Mi Hong, Yong Soo Yun, Kwang Ho Lee
Clin Exp Pediatr. 1999;42(1):47-59.   Published online January 15, 1999
Purpose : Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes the elastin gene. We examined the hemizygotic deletion of Chromosome 7q11.23 in 12 Korean Williams syndrome patients and 8 patients with isolated supravalvular aortic stenosis and performed deletion mapping...
Case Report
A Case of Williams Syndrome Diagnosed by FISH
Hyun Kim, Won Bae Lee, Won Bae Lee
Clin Exp Pediatr. 1998;41(10):1433-1437.   Published online October 15, 1998
Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect(particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial...
Original Article
Developmental mRNA Expression of Cellular Retinoic Acid Binding Protein I and Ⅱ in Rat
Young Yoo, Hyung Suk Kim, Chang Sung Son, Young Chang Tockgo, Young Hyuk Jeon
Clin Exp Pediatr. 1998;41(2):154-162.   Published online February 15, 1998
Purpose : Retinoic acid(RA) is well known as a potent teratogenic agent in both deficiency and excess. Cellular retinoic acid binding proteins(CRABPs) are involved in RA. We carried this study in order to determine the possible relations of CRABPs with RA-induced teratogenesis through observation of the expression patterns of CRABP Ⅰand Ⅱ in developing rats. Methods : 35S-labeled RNA probes were...
Use of Fluorescent in Situ Hybridization to Evaluate the Number of Chromosomes in Buccal Smear Cells in Normal Newborn Infants
Byoung Chan Lee, Jee Yeon Song, So Young Kim, Hyun Hee Kim, Seunghoon Han, Jong-In Byun, Wonbae Lee, Kyong Su Lee
Clin Exp Pediatr. 1995;38(11):1470-1475.   Published online November 15, 1995
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...