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Original Article
General Pediatrics
Gross motor dysfunction and balance impairments in children and adolescents with Down syndrome: a systematic review
Preyal D. Jain, Akshatha Nayak, Shreekanth D. Karnad, Kaiorisa N. Doctor
Clin Exp Pediatr. 2022;65(3):142-149.   Published online June 11, 2021
Question: What are the primary motor and balance dysfunctions in children with Down syndrome?
Finding: These individuals have gross delays, altered balance, and inefficient compensatory mechanisms.
Meaning: Neuromuscular and musculoskeletal impairments due to the chromosomal abnormality lead to developmental delay. These children also exhibit poor balance with greater instability and inefficient compensatory mechanisms including altered center of pressure displacement and trunk stiffening that predisposes them to falls.
Case Report
A case of partial trisomy 3p syndrome with rare clinical manifestations
Dong Hoon Han, Ji Young Chang, Woo In Lee, Chong Woo Bae
Clin Exp Pediatr. 2012;55(3):107-110.   Published online March 16, 2012

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft...

Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17
On Jung, Jung-Hyun Lee, Chung-Sik Chun
Clin Exp Pediatr. 2007;50(3):311-315.   Published online March 15, 2007
This is the first case of a de novo balanced translocation 46, XY, t(3;17)(p12.2;q25) associated with multiple musculoskeletal abnormalities, including Sprengel's deformity (congenital undescended scapula to be reported). This translocation has not been described previously with this congenital anomaly in Korea.
Review Article
Hypernatremia and hyponatremia
Dong Un Kim
Clin Exp Pediatr. 2006;49(5):463-469.   Published online May 15, 2006
Sodium is the major cation of the extracellular fluid and the primary determinant of extracellular osmolality. Therefore, hypernatremia causes water movement out of cells, while hyponatremia causes water movement into cells, resulting in cellular shrinkage and cellular swelling, respectively. Serious central nervous system symptoms may complicate both conditions. Since hypernatremia and hyponatremia are accompanied by abnormalities in water balance, it...
Case Report
A Case of Short Arm Deletion and Long Arm Duplication at Chromosome 3
Seung Hyun Kong, Jeong Il Seo, Jang Hui Kang, So Young Jung, Ji Sun Mok
Clin Exp Pediatr. 2005;48(12):1389-1393.   Published online December 15, 2005
The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21 qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another...
Original Article
Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation
Han Hyuk Lim, Hee Jeong Jeong, Kyung Duk Park, Sook Ja Kim
Clin Exp Pediatr. 2005;48(7):701-705.   Published online July 15, 2005
Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods :...
Case Report
Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family
Saeah Min, Seonwoong Lim, Youngsook Kim, Ohkyung Lee
Clin Exp Pediatr. 2002;45(7):917-922.   Published online July 15, 2002
An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation carrier fall into the following classes : Those in which none of the possible abnormal offsprings is viable; Those in which one type of offspring, usually the one with the...
A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
So Yeon Yoon, Jae Kyun Hur, Dae Chul Jeong, Won Bae Lee, Chang Kyu Oh
Clin Exp Pediatr. 1999;42(8):1149-1153.   Published online August 15, 1999
Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital abnormalities, microcephaly, hypertelorism, prominent glabella, cleft lip and palate and micrognathia. In 87% of cases, chromosome 4 deletion arises as a de novo event, whereas in the remaining cases it...
A Case of 3p Partial Trisomy
Jeong Eun Park, Il Soo Kim, Moo Young Song, Eun Ryoung Kim, Shin Young Moon, Sun Kyung Oh
Clin Exp Pediatr. 1996;39(6):873-880.   Published online June 15, 1996
3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had multiple anomalies such as brachycephaly, wide open fontanelle, square face, hypertelorism, mongoloid palpebral fissure, micrognathia, low set malformed ear, bilateral cleft lip and palate, double outlet right ventricle, atrial septal defect,...
Partial Monosomy 21 Associated with Unbalanced t(10p;21q)
Bon Su Koo, Sang Uk Park, Jae Hong Park, Su Yung Kim
Clin Exp Pediatr. 1995;38(8):1146-1150.   Published online August 15, 1995
We experienced a case of partial monosomy 21 ina 9 year and 8 month old boy. He showed mental and growth retardation, others normal appearance except for low set malformed ears. Chromosomal analysis on Giemsa banding with high resolution showed unbalnaced translocation between 10 and 21 chromosomes and the deletion of short arm and centromere of chromosome 21. His karyotype...
Original Article
Body Composition of Children and Adolescents with Insulin-dependetn Diabetes Mellitus
Hye Young Kang, Mi Jung Park, Duk Hi Kim, You Kyung Park, Jong Ho Lee, Ho Seong Kim
Clin Exp Pediatr. 1994;37(12):1709-1716.   Published online December 15, 1994
Bodycomposition measurement is useful in the diagnosis of pathoogy, assessment of disease process and response to treatment in many endoclonologic and metabolic diseases. The Techniques used currently are mostly indirect, often expensive, difficult and time-consuming. A new method for estimation of body composition, infrared interactance, is rapid, safe, noninvasive, and may be useful in research ad clinical studies. Body composition was...
Case Report
A Case of 4p+ Syndrome
Souck Joong Yoon, Sung Jin Hong, Hyung Gu Jo, Dong Chul Park
Clin Exp Pediatr. 1994;37(9):1325-1329.   Published online September 15, 1994
We experinced a case of 4p+ syndrome in male infant. He had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, lower anterior hair line, depressed nose, broad nasal bridge, bilateral complete cleft lip and palate, short neck, unusual position of fingers, ventricular septal defect and umblical hernia. He menifested growth and developmental retardation. Karyotype with banding revealed an...
Original Article
A case of 4p- syndrome with oligomeganephronia.
Ri Sa Lee, Bong Sik Kong, Beyong Il Kim, Sang Kyu Park, Ho Jin Park, Soong Deok Lee, Je Geun Chi
Clin Exp Pediatr. 1991;34(4):558-565.   Published online April 30, 1991
The 4p_ syndrome results from structural deficiency of chromosome 4. We experienced a patient of 4p~ syndrome who all features of already described Wolf syndrome, i.e., prominent glabella, hypertelorism, broad beak nose, cleft lip and palate, kyphoscoliosis, hypospadia, etc.. Postmortem examination revealed multiple visceral anomalies, including large atrial septal defect, diaphragmatic eventration, intestinal malrotation, ankyloglossia, and hemivertebrae. The kidneys showed a marked simple hypoplasia weighing...
Sodium Homeostasis by Neonatal Kidney.
Seung Joo Lee
Clin Exp Pediatr. 1987;30(1):17-25.   Published online January 31, 1987
Sodium homeostasis by neonatal kidney is important during the postnatal adaptation of body fluid. It is mainly dependent to renal function which was differently maturated by gestational and postnatal ages. I studied the postnatal changes of daily Na intake, urine Na, Na balance, FEN a and Serum Na concentration in neonates with different gestational age. In this study, I demonstrated that more increased urinary...
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