先天性智能发育不全患儿的细胞遗传学研究  

CYTOGENETIC STUDIES OF CHILDREN WITH CONGENITAL MENTAL RETARDATION

作　　者：税青林[1] 杨华秀[2] 肖翠英[1] 黄燕[1] 赵小萍[1] 

机构地区：[1]泸州医学院生物学教研室,646000 [2]泸州医学院附属中医院肝胆内科,646000

出　　处：《泸州医学院学报》1995年第1期13-16,共4页Journal of Luzhou Medical College

摘　　要：作者自1989年以来，对220例先天性智能发育不全患儿进行了细胞遗传学研究，结果发现53例具有染色体异常，检出率为24．1％．异常核型共18个种类，涉及15号染色体，既有数目畸变，又有结构畸变，其中以21三体居多（66．0％）146，XX，t（4；14）（P16；q24）枝型为国内首报．对这些异常核型的成因进行分析，认为①与接触致畸因素有关；②由亲代遗传而来；③与母亲高龄有关。本文的研究结果揭示，广泛开展染色体技术，是诊断和预防智能发育不全、实行优生的一项重要措施。Cytogentic studies of 220 children with congenital mental retardatibn were conductedfrom 1989 to 1994. The incidence of chromosomal anomaly was investigated and chromosome analysiswas performed in all the patients. 53(24. 1 % ) of the children showed chromosomal abnormalities. A-mong them, 37 children had Down's syndrome,including 24 cases of the trisomy type, 8 cases of themosaic type and 5 cases of the translocation type. 3 children had other autos0mal numeral abnormali-ties: 2 cases were trisomy 13 or 18 and 1 case mosaic monosomy 21. 9 patients had other autohomalstructural abnormalities: 46, XY, 5P- . 46, XY (XX), inv (9). 46, XY, t (7;10 ). 46, XY, t (3; 11 ) . 46,XX,t(4 ;14) .46,XX,del(9) ;and karyotype 46,XX,t(4; 14) (p16;q24) which had not been reportedat home previously. 4 children had sex chromosomal abnormalities. The origins of the chromosomal ab-normalities were also discussed.

关 键 词：智力迟钝 细胞遗传学 染色体畸变 儿童 

分 类 号：Q343[生物学—遗传学] R749.93[医药卫生—神经病学与精神病学]