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정신지체 환자의 세포유전학적 분석

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Author(s)
김정범정철호
Keimyung Author(s)
Kim, Jung BumJung, Chul Ho
Department
Dept. of Psychiatry (정신건강의학)
Journal Title
신경정신의학
Issued Date
1994
Volume
33
Issue
5
Keyword
CytogeneticsFragile X chromosomeMental retardation
Abstract
Objects : The cytogenetic study was designed to investigate the association between mental retardation and chromosomal disorders including fragile X.
Methods : Subjects were consists of 30 children(17 males, 13 females) and their age varied 24 to 228 months. The severities of mental retardation were mild in 26 patients, moderate in 1 patient and severe in 3 patients. The peripheral blood was cultured in medium 199 with methotrexate and without methotrexate for 70 hours.
Thirty metaphase cells, in each were karyotype in all samples.
Results : Chromosomal abnormalities were found in 10 patients, but fragile X was negative in according to Jacob's positive criteria((???)4%) in all patients, although I fragile ×(3.3%) was found in 1 patient. Chromosomal abnormalities were present on group A, B, C, D, E and X. There was no regional specificity of chromosomal abnormalities. Types of chromosomal disorders were only fragile and/or gap but no numerical abnormality was present in all cases(46XX or 46XY). Number of cells which revealed fragile sites were 29 cells(3.2%) out of 900 cells. Number of cells which revealed gaps were 35 cells(3.9%) out of 900 cells.
Conclusions : These results suggest that fragile X syndrome was not found in mentally retarded patients. If further studies are performed in larger sample size, selected objects and special blood culture methods, the results may change.
Alternative Title
Cytogenetic Analysis of Children with Mental Raterdation
Keimyung Author(s)(Kor)
김정범
정철호
Publisher
School of Medicine
Citation
김정범 and 정철호. (1994). 정신지체 환자의 세포유전학적 분석. 신경정신의학, 33(5), 1125–1133.
Type
Article
ISSN
1015-4817
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/36773
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Psychiatry (정신건강의학)
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