정신지체 환자의 세포유전학적 분석

• 영문명: Cytogenetic Analysis of Children with Mental Retardation
• 발행기관: 대한신경정신의학회
• 저자명: 김정범 정철호
• 간행물 정보: 『신경정신의학』제33권 제5호, 1125~1133쪽, 전체 9쪽
• 주제분류: 의약학 > 정신과학
• 파일형태: PDF
• 발행일자: 1994.09.30

영문 초록

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 1 fragile X (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(46 X X 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.

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키워드

Cytogenetics Fragile X chromosome Mental retardation