217例智力低下患儿细胞遗传学分析

STUDY ON CYTOGENETICS IN CHILDREN WITH MENTAL RETARDATION

目的 :探讨先天性智力低下患儿细胞遗传学特点。方法 :对 2 17例智力低下患儿外周血淋巴细胞进行染色体G带 (必要时加作C带、N带 )分析。结果 :检出异常核型 5 1例 ,检出率 2 3 5 0 % ,其中常染色体数目异常 44例 ( 2 0 2 8% ) ,常染色体结构异常 5例 ( 2 30 % ) ,性染色体数目、结构异常各 1例 (各 0 46 % )。染色体形态变异 (大Y、inv( 9)、h+、S+) 15例 ,检出率 6 91% ,其中 2例为世界首报核型。结论 :先天性智力低下与染色体异常密切相关 。

OBJECTIVE:To invesigate cytogenetic characteristics in children with mental retardation. METHOD:Chromosome G-band of lymphocyte from peripheral blood in 217 children with mental retardation.RESULTS:51 abnormal karyotypes amounted for 23.5% had been found amoung the surveyed patients.Of the abnormal Karyotypes,44 cases (20.20%) were abnormal quantity of autosome;5 cases (2.30%) were abnormal structure of autosome;I case(0.46%) was abnormal quantity and structure of sex chromosome for each;15 cases (6.91%)were chromosome morphologic variation(big Y,inv(a),h -,S +).Two Karyotypes were first reported in the world. CONCLUSION:Congenital mental retardation is closely related to chromosome abnomality and partly to chromosome morphologic variation.