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Case Report
Genetics and Metabolism
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24.   Published online November 30, 2016

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...

Review Article
Mental retardation and other neurodevelopmental disorders
Kwon Soon Hak
Clin Exp Pediatr. 2006;49(10):1026-1030.   Published online October 15, 2006
Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay...
Case Report
A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy
Yeon Kyung Jung, Gyeong Hoon Lee
Clin Exp Pediatr. 2005;48(1):108-111.   Published online January 15, 2005
Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to- end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but...
Clinical Lecture
Cognitive Dysfunction in Children
Eun Sook Suh
Clin Exp Pediatr. 2004;47(4):351-354.   Published online April 15, 2004
Cognition is a broad term that include a range of abilities such as memory, perception, attention, organization, planning, problem solving abilities and the perception of another person's unconscious motivation. Cognitive dysfunction is an abnormality of the central nervous system, manifest during the developmental period, which result significant life long impairment. The neurologic assessment of the delayed or retarded child emphasizes...
Original Article
A Clinical Study on Mental Retardation of Preschool Children Diagnosed in Pediatric Developmental Clinic
Young Yeui Kim, In Kyung Sung
Clin Exp Pediatr. 2004;47(2):157-163.   Published online February 15, 2004
Purpose : Mental retardation, which can be defined as subnormal cognitive ability with markedly decreased ability to adapt to one's environment, is a common developmental disorder. But the diagnosis of mental retardation in young children is frequently missed in pediatric clinics. The purpose of this study is to increase the rate of early diagnosis and intervention by providing clinical information...
Case Report
A Case of Partial Inverted Duplication of Chromosome 7q
Hyun Ji Kim, So Young Lee, Mi Young Kim, Chung Sun Baek, Won Duck Kim, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
Clin Exp Pediatr. 2003;46(5):510-513.   Published online May 15, 2003
Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long...
Original Article
Clinical Characteristics of Williams Syndrome
Choong Ho Shin, Ho Sung Kim, Sei Won Yang, Jung Yun Choi
Clin Exp Pediatr. 2001;44(4):443-449.   Published online April 15, 2001
Purpose : Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral characteristics of children and adults with WS confirmed by fluorescence in situ hybridization. Methods : The clinically suspicious twelve cases with cardiac anomaly were confirmed as WS with fluorescence in...
Case Report
A Case of Acrodysostosis
Suk Hyun Lee, Chang Won Oh, Kyoung Sim Kim, Ki Bok Kim
Clin Exp Pediatr. 1995;38(1):133-137.   Published online January 15, 1995
Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients, and thus far now over 30 published cases have been reported worldwide. Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion...
Original Article
Etiological Classification of Mentally Retarded Children Enrolled in a Special Educational Institution
Seon-Kyeong Yoo, Han-Wook Yoo
Clin Exp Pediatr. 1994;37(10):1437-1448.   Published online October 15, 1994
Mental retardation(MR) is classically deficits in adaptive behavior and manifest during the developmental period. The causes of mental retardation were not understood in many cases. This study was undertaken to identify the etiologies of mentally retarded children enrolled in a special educational institution under the hypothesis that clarifying causes of MR can not only provide basic epidemiological data on MR in...
Case Report
A Case of Fukuyama Type Congenital Muscular Dystrophy
Young Eun Lee, Min Hyea Kim, Keun Lee, Eun Chul Chung, Hyea Soo Koo
Clin Exp Pediatr. 1992;35(10):1463-1468.   Published online October 15, 1992
Fukuyama type congenital muscular dystrophy is characterized by mental retardation, progressive muscle weakness and hypotonia, joint contracture and seizures in half of the reported cases. The usual CT abnormalities are dilated cerebral ventricles and Sylvian fissures and lucency of cortical white matter. The most consistent pathologic findings in the brain are polymicrogyria and pachygyria, caused by a disturbance of migration...
Original Article
A Clinical Study on Duchenne Muscular Dystrophy
Moon Sun Yang, Su Ahn Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 1992;35(5):652-658.   Published online May 15, 1992
Twenty-five cases of Duchenne muscular dystrophy(DMD) who were diagnosed in the department of pediatrics, Seoul national university hospital (from Jan. 1985 to June 1991) were reviewed. The results were as follows. 1) All of the patients were male. 2) The onset of symptoms was between two and eight years of age. The peak incidence was at four years of age. 3) Chief complaints...
A case of Rubinstein-Taybi syndrome.
Cheol Hee Hwang, Dong Gue Lee, Myung Sug Nam, Moon Kee Cho
Clin Exp Pediatr. 1991;34(8):1146-1150.   Published online August 31, 1991
Rubinstein-taybi syndrome is characterized by typical skeletal abnormalities such as broad thumb and large first toe, mental and motor retardation, and facial abnormalities. In addition, defects of the cardiovascular system and the urinary tract may be present. We have experienced a case of Rubinstein-Taybi syndrome which a five-year-old boy had broad thumb and large first toe, mental and motor retardation, and facial abnormaiities (palpebral...
Case Report
Hereditary Spastic Paraplegia.
Nan Ae Kim, Moon Ki Cho, Chang Jun Coe, Duck Jin Yun, Jung Ho Suh
Clin Exp Pediatr. 1982;25(5):498-502.   Published online May 31, 1982
Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental retardation and extrapyramidal symptom that is thought inherited by autosomal dominant inheritance pattern. A review of literatures was made briefly.
Original Article
Chromosome Study of the Congenital Anomaly and Mental Retardation in Korean Children.
Ra Lee, In Joon Seol, Woo Gill Lee, Soo Jee Moon, Chong Moo Park
Clin Exp Pediatr. 1981;24(9):812-819.   Published online September 15, 1981
The authors studie 111 cases of congenital anomalies and/or mental retardation. 56cases of congenital anomalies and/or mental retardations were cared and admitted at pediatric department in Han Yang University hospital. 55 cases were in institution for the mentally retarded. The authors studied chromosome analysis about 111 cases with congenital anomalies and/or mental retardation. The results obtained were as follows: A)...
Case Report
A Case of 18p- Syndrome.
Jin Tae Kim, Byoung Soo Cho, Chang Hyo Lee, Chang Il Ahn, Kap Soon Ju
Clin Exp Pediatr. 1981;24(6):589-591.   Published online June 15, 1981
We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of...
A Case of Short Arm Deletion of Chromosome 14.
Ra Lee, Jin Choi, Woo Gill Lee, Chong Moo Park, Yong Kyun Paik
Clin Exp Pediatr. 1981;24(2):164-168.   Published online February 15, 1981
We have experienced a case of short arm deletion of chromosome 14 (46, XY, del (14p)) in a 3y4 years old boy who had chief problems of mental retardation and microcephaly. This case was confirmed by chromosome analysis with various banding method. Dermatoglyphic analysis of the patient showed increased total ride counts die presence of whorl patterns and simian creases...