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Case Report
Esthesioneuroblastoma in a boy with 47, XYY karyotype
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park
Clin Exp Pediatr. 2016;59(Suppl 1):S92-S95.   Published online November 30, 2016

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid...

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

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.


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

Clinical disease characteristics according to karyotype in Turner syndrome
Chae Young Yeo, Chan Jong Kim, Young Jong Woo, Dae Yeol Lee, Min Sun Kim, Eun Young Kim, Jong Duck Kim
Clin Exp Pediatr. 2010;53(2):158-162.   Published online February 15, 2010
Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals...
A Cytogenetic Study in Patients with Sex Chromosome Abnormalities
Hyun Ji Seo, Ji Hye Lee, Heung Kyo Lee, Seung Hee Jung, Kun Soo Lee
Clin Exp Pediatr. 2005;48(12):1317-1323.   Published online December 15, 2005
Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital...
Renal Anomalies in Children with Turner Syndrome
Ji Young Kim, Sun Young Hong, Young Mi Park, Yong Hoon Park, Woo Yeong Chung
Clin Exp Pediatr. 2002;45(7):891-895.   Published online July 15, 2002
Purpose : The prevalence of renal anomalies in Turner syndrome(TS) has been reported to vary from 33% to 60%. The purpose of this study was to clarify the true incidence of renal malformations in Korean TS. Methods : We evaluated 33 patients with Turner syndrome diagnosed by karyotype in Inje University Busan Paik hospital and Youngnam University from January 1995....
Evaluation of Chromosomal Analyses done on the Parents with Chromosomal Anomalous Children and Recurrent Abortion
Kyoung Sim Kim, Kibok Kim, Won Jin Kee
Clin Exp Pediatr. 1996;39(9):1216-1223.   Published online September 15, 1996
Purpose : To gather reference data for better genetic counseling, we have evaluated the outcomes of chromosomal analyses performed on the parents with chromosomal anomalous children and recurrent abortion in this hospital for the last 20 years. Methods : Subjected to study were 108 parents (50 fathers & 58 mothers) who had children with Down syndrome, other chromosomal and congenital anomalies, and those who...
Cytogenetic Analysis of Chorionic Villi of 240 Spontaneous Abortions
S. J. Kim, S. H. Lee, K. S. Cha, S. H. Park
Clin Exp Pediatr. 1995;38(12):1610-1619.   Published online December 15, 1995
Purpose : Chromosomal abnormality is one of the major causes of spontaneous abortion, especially in abortion of first trismester. To detect the incidence and kinds of chromosomal abnormalities, we analyzed karyotypes of 240 cases of spontaneous abortus. Methods : We analyzed karyotypes of 240 cultured chorionic villi of products of conceptus from pregnant women with spontaneous abortions visiting CHA general hospital...
Clinical Differences by Karyotype in Patients with Turner Syndrome
Mi Jung Park, Jin Sung Lee, Kir Young Kim, Duk Hi Kim, Ho Seoung Kim
Clin Exp Pediatr. 1995;38(2):143-150.   Published online February 15, 1995
Purpose : The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. Methods : We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH...
Physical Features, Karyotypes and Dermatoglyphics of 113 Children with Down Syndrome.
Byung Ho Lim, Kyoung Sim Kim, Ki Bok Kim
Clin Exp Pediatr. 1988;31(4):474-481.   Published online April 30, 1988
The physical features including dermatoglyphic patterns as well as the karyotype patterns were assesed in 113 children with Down Syndrome who had been cytogenetically confirmed in the Department during past 5 years from August 1981. The results are summarized as follows: 1) The sex ratio of the patients was 1.2 male to one female. 2) Cytogenetic examination revealed 21-trisomy in 79% and translocation in 21% of all...
Cytogenetic Study on Chromosome Aberration in Children.
Chong Woo Bae, Chang Il Ahn, Bo Hoon Oh, Kap Soon Ju
Clin Exp Pediatr. 1987;30(6):633-639.   Published online June 30, 1987
We have conducted a retrospective study on chromosomal aberrations in children, aged under 15 years old, who had been refered to cytogenetic laboratory at Kyung Hee University Hospital from 1977 to 1986 Base upon the Karyotypes of lymphocytes and chart records, the following results were obtained; 1) Chromosomal aberrations of various types were found in 101 cases in children. 2) Age distribution revealed 65.3% were under the...
A survey of chromosome studies in 466 cases.
In Sung Lee, Cheol seung Son, Ki Bok Kim
Clin Exp Pediatr. 1985;28(2):160-168.   Published online February 28, 1985
The results of chromosomal studies performed at the Dept, of Pediatrics, Kwangju Christian Hospital from March 1974 to May 1984 were analyzed as to the clinical categories. Out of total 514 cases subjected to chromosomal studies, karyotype patterns were obtained in 466 cases, the success rate reaching 91%. Fifty two percent of all cases subjected to karyotype analysis were under...
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