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Case Report
Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy
Hee Jung Chung, Young Rae Kim, Man Yong Han, Sook Hwan Lee
Clin Exp Pediatr. 2000;43(3):417-422.   Published online March 15, 2000
The Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features...
Erratum
Fragile X Syndrome : Clinical Characteristics and EEG Findings
Hee Jung Chung, Kwang Eun Cha, Sook Hwan Lee
Accepted January 1, 1970  
Purpose : Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent reports have focused attention on the EEG finding of this syndrome, which is a particular paroxysmal pattern during sleep(mono or diphasic centrotemporal spikes) and awake state(background slowing). In this study, we analyzed the clinical...
Case Report
A Case of Partial Trisomy of 3p(Trisomy of 3p23)
Seo Jeong Kim, In Kyu Kim, Kyu Hyoung Lee, Sook Hwan Lee, Kyoung Sub Cha, Sun Ja Park
Clin Exp Pediatr. 1994;37(7):1006-1010.   Published online July 15, 1994
Partial Trisomy of 3p(Trisomy of 3p2, dup(3)(p23→pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This syndrome shows multiple congenital anomalies with severe mental retardation, characteristic craniofacial change and absence of other gross external abnormalities. The craniofacial dysmorphism includes frontal bossing and temporal indentation, square face, marked hypertelorism, thick...