【摘要】 本论丛收集我院遗传研究室82年的论文、简报共十二篇。其中3415例活产婴的核型分析;1168例遗传咨询门诊病人的核型分析,139对流产夫妇的核型分析,提供了我国群体染色体异常发生率和类型的第一手资料。家族性染色体断裂易位热点睾丸决定因子定位的的研究,在细胞遗传学基础理论问题上提出了新的见解。对变化多端的9号染色体有三篇研完报告。另有两篇对 XXY,XX/XY,XX/XXY 两性畸形的病例分析,澄清了过去一些未能解释的问题。此外,还有两篇技术方法的报道。由于每篇文字篇幅简短,未便逐篇分写提要,爰加编者按,综合加以简介。更多还原

【Abstract】 To investigate the incidence of chromosomal aberrations in the Chinese popula-tion,cord blood was obtainedf rom 3,415 consecutive liveborn babies from 3 hos-pitals in the north district of Changsha between 3 May,1979 and 24 May,1982.A total of 3,415 babies including 1,718 boys and 1,696 ginls(Table 1)werekaryotyped with G-banding.The child bearing age of the paconrs ranged from 25—34 fathers accounting for 91.5% and mothers 84.2%(Table 3).Altogether 25 cases(male 16,female 9)of chromosomal aberrations were identified(Table 3).The inci-dence was 0.73%(male 0.93%,female 0.53%),which approximated to thatreported previously(0.60%—0.73%).(Table 4).Their karyotypes are as follows:(2—4)47,XX,+18;47,XY,+22;45,XO;47,XXX(3 cases);47,XXY(2 cases);47,XYY;46,XY,inv(5)(P15.1q33.1)mat;46,XY,inv(3)(p13q25)pat;46,XY,inv(7)(q11q22)pat;46,XX,t(1;4)(q24;q21);46,XY,t(1;8)(q25;P21);46,XX,t(2;19)(2p19q;2q19p)mat;46,XY,t(12;14)(q2410;q13)pat;45,XX, t(13q;14q);45,XY,t(13q;14q)pat;45,XY,t(13q;14q);45,XY,t(14q;21q)mat;46,XX,t(15;19)(q13;p13);45,X,ter rea(13;Y)(P11;q1110);46,XY,t(Y;15)(q1110;p12)pat(3cases).Among them there were 7 cases of sex chromosome numerical anomalies(0.21%);2 autosome numerical anomalies(0.06%);4 Robertsoian translocation(0.12%);5reciprocal translocations(0.15%);4 Y/autosome translocations(0.12%);3inversion(0.08%).In 23 cases pedigree analyses were done.GTG is used as routine,QFQ,CTG and High-resolution G-banding adopted when necessary.10 cases(43%)were transmitted from their parents with an average child bearing age of 30.2paternally and 27.0 maternally 13 cases(57%)arose de novo with an averagepaternal age of 31.8 and maternal 27.7.54 cases(1.58%)of chromosomal variants werefound(Table 2).They were:inv(9)(28 cases);9qh-(1 case);dup 9qh(2 cases);14p+(1 case);15ph+(3 cases);15s+(2 cases);16qh+(3 cases);21ph+(1 cases);22ph+(2 cases);Yp+(4 cases);Yqh+(7 cases)更多还原