139对自然流产夫妇的染色体分析

自1979年6月27日至1982年5月27日,我们对遗传咨询门诊病人中的139对具有一次或一次以上自然流产史的夫妇作了染色体检查。其流产情况见表1,妊娠情况见表2,所检出的染色体异常病例的核型与生育史见表3。从139对夫妇中共查出染色体异常者14例,占受检人数的5.0%,与文献中报道结果近似。14例染色体异常者共具有13种核型,其中具有数目异常者2例,占14.3%,均为 X 染色体的嵌合体的女

CHROMOSOME ANALYSES OF 139 COUPLES WITH SPONTANEOUS ABORTIONS

From 27 June 1979 to 29 May 1982.Chromosome analyses of 139 couples with onceor more spontaneous abortions were done in genetic counseling.Their reproductivehistories were illustrated in table 1,2.Fourteen out of 139 couples revealed the presence of chromasome aberration(5.0%),the incidence was close to previous reports,among which the presenting aberrations demonstrated 13 karyotypes:2 cases of numerical abnormality were Xchromosome mosaics,and 12 cases of structural abberations involved chromosomeNos.1.2.4.7.9.12.13.14.15.17.Y.All the structural abberrations were balancedtranslocations,among which 7 cases were reciprocal translocation and 5 Robersontranslocation,and suggested that,balanced translocation is of cytogenetoetiologicimportance to spontaneous abortion.By Predigree analyses of 7 cases,5 arose de novo,only 2 cases were transmitedfrom the previous generation,and other 7 cases refused our investigation andhence uncertained.The above analyses suggested that new mutations played an impor-tant role in chromosomal abnormalities in the population as a cause of spontaneousabortion.Review of the reproductive histories of cases of 14 couples,11 cases suffered fromthree or more abortions,1 had twice abortion and 1 got once abortion and anothermalformed fetus in addition,still 1 case had only once abortion.The records rep-resented that,habitual abortion is still the major indication of chromosomal analysis,but once abortion should not be neglected yet,and this is of practical importancein family planning especially with respect to our national eugenic policy.