9种新的人类染色体异常核型报告

发现9种新的人类染色体异常核型,分别为: 46, XX, t(2; 10)(q33; q11); 46, XY, t(10; 12)(q26; q22); 46, XY, t(6; 15)(p23; q23); 46, XY, t(1; 6)(p36; q21); 46, XY, t(1; 19)(p32; p13); 46, XY, t(16; 18)(q22; q21); 46, XY, inv(1)(p36q25); 46, XY, t(13; 17)(q12; q25); 46, XY, t(15; 21)(q26; q11)。异常核型是导致自然流产和不育的原因。 Abstract　Nine new kinds of human chromosomal abnormal karyotypes were reported. They were46, XX, t(2; 10)(q33; q11); 46, XY, t(10; 12)(q26; q22); 46, XY, t(6; 15)(p23; q23); 46, XY, t(1; 6)(p36; q21); 46, XY , t(1; 19)(p32; p13); 46, XY, t(16; 18)(q22; q21); 46, XY, inv(1)(p36q25); 46, XY, t(13; 17)(q12; q25) and 46, XY, t(15; 21)(q26; q11). The chromosomal anomalies were the causes of spontaneous abortions and infertilities.     

新近发现的自然流产夫妇的几种染色体异常

本文对218对自然流产夫妇进行了染色体分析,发现17种异常核型,其中46,XY,t(13;14)(q14;q32)、46,XX,t(11;18)(q25;q21)、46,XY,t(4;10)(q31;q11)、 46,XX,t(15;21)(q24;q11)和46,XY,t(6;16)(p24;q13)为世界首报核型。作者同时报道了7例单个细胞染色体异常病例。对染色体异常与流产的关系进行了讨论。 Abstract:Chontaneous abortions and 17 kinds of abnormal karyotypes were discovered.Among which,five abnormal karyotypes were first reported in the world.They are 46,XY,t (13;14)(q14;q32);46,XX;t(11;18)(q25;q21);46,XY,t (4;10) (q31;q11); 46,XX,t (15;21) (q24;q11) and 46,XY,t (6;16) (p24;q13). The chromosome abnormalitics and spontaneous abortious was discussed.     

130例智力低下儿童脆性X检测报告

本文采用脆性 X检测技术对130例先天性智力低下儿童进行了细胞遗传学研究,结果共发现27例具有染色体异常。其中t(5;15)及t(8;12),inv(9)两例核型,经鉴定为世界首报核型;检出5例脆性X综合征,检出率为3.77%,占异常核型的18.5%。 Abstract:The cytogenetic study was made on 130 mentally retarded children with the technique of Fra(X) detection.Among the 27 mentally retarded children with chromosomal abnormalities found in the study,the two karyotypes of t (5;15) and t (8;21),inv(9) were first reported in the literature.of the 130 mentally retarded cases,5 had fragile (X) syndrome (3.77%).The syndrome accounted for 18.5% in the abnormal karyotypes.     

16种罕见的人类染色体异常核型报告

通过对患有闭经、自发流产、死胎、死产等患者外周血淋巴细胞染色体检查,发现16种新的罕见人类染色体异常核型,它们是46,XY,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33;q22);46,XY,t(8;15)(q24;q15);46,XY,t(2;17)(q33;q25);46,XX,t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X,inv(X)(q22;q28);46,XX,t(7;10)(p11;q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11)。描述了患者的临床表现,并对生殖异常患者染色体畸变与其表型效应关系进行探讨。Abstract：By examining the lymphocytic chromosomes of peripheral blood from patients with amenorrhea,spontaneous abortion and stillbirth history, .the 16 rare species of human chromosomal abnormal karyotypes were discovered. They wre 46,XY,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33;q22);46,XY,t(8;15)(q24;q15);46,XY,t(2;17)(q33;q25);46,XX,t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X,inv(X)(q22;q28);46,XX,t(7;10)(p11;q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11). Their clinical situation were described. Discussion on the relationship between the chromosomal aberrations and phenotype effect indicates the importance of chromosome karyotyping in patients with abnormal reproductive history.     

应用染色体涂染技术分析两例染色体结构异常 Analysis of the Structure of Abnormal Karyotypes by Using Chromosome Painting

为了确定两例细胞遗传学提示染色体结构异常的核型,应用通过显微切割技 术构建的人类18号和7号染色体探针池,分别对这两例病例的中期分裂相进行染色体涂染,结合显带染色体,确定两者核型分别为46,XY,t(3;18) (q12;q21)和46,XX,dir ins(1;7)(p3104;q34q36)。染色体涂染技术是染色体显带技术的重要补充和发展,为染色体结构异常提供了一种直观、准确的检测手段,在遗传咨询和产前诊断方面有重要作用。 Abstract:In this study,chromosome painting technique was performed to analyse the abnormal karyotypes of two carriers.Chromosome 18 and 7 specific libraries,which were generated by chromosome microdissection technique,were used as probe pools to hybridize the carriers metaphase chromosomes respectively.Unlabled human genomic DNA was used to inhibit the hybridization of sequences in the library that bind to mutiple chromosomes.Structure abnormality was detected clearly in metaphase.Combined with the banding chromosomes,we concluded that their karytypes were 46,XY,t(3;18)(q12;q21)and 46,XX,dir ins(1;7)(p3104;q34q36).Chromosome painting,as a direct and concise method in analysing chromosome structure abnormality,is an important complement and development of chromosome banding technique,and has important application in genetic counselling and prenatal diagnosis.     

优生与遗传咨询的临床研究

总结本室优生遗传咨询门诊万例病例资料,应用细胞学方法、荧光原位杂交法和分子遗传学PCR方法检出外周血染色体异常率10.30%（555/5390）,产前诊断核型异常率为6.68%（145/2171）,胎停育绒毛核型异常率45.16%（28/62）,总检出率为9.55%;PCR检测178例,正常人155例,患者23例;FISH结果：性别Y检测5例,21-三体征检测6例,均阳性。传统细胞学方法为染色体病诊断不可替代的重要手段;分子遗传学PCR方法及FISH检测方便、快速、精确,值得推广;遗传咨询,遗传病检测及产前诊断,对降低患儿出生率具有重大意义。 Clinical Research of Genetic Counseling WANG Shu-yu,WANG Su-gui,REN Guo-qing,JIA Chan-wei,MA Yan-min,XUE Hong Capital Medical University Beijing OB/GYN Hospital,Beijing 100006,China Abstract:To supply reliable materials for the assessment of recurrence risk,prenatal diagnosis and the supervision of high risk persons,we analyzed 10811 patients with the methods of cytogenetics,fluorescent in situ hybridization and molecular genetic PCR methods.The result of cytogenetics:there were 555 abnormal karyotypes of peripheral blood on 5390 cases (10.30%);In 2171 patients who asked for prenatal diagnosis,145 abnormal karyotypes were found (6.68%);We also karyotyped chorionic villous cells of 62 patients with spontaneous abortion and found 28 abnormal karyotypes (45.16%).The PCR results of 23 patients with Down's syndrome were all positive while the results of 155 normal persons were all negative.The method of cytogenetics is very important for diagnosis of abnormal karyotypes;Molecular genetic methods by PCR and FISH are quick,convenient and applicable way. Key words：genetic counseling; prenatal diagnosis; karyotypes abnormal; molecular genetics     

无精和严重少精症患者的遗传缺陷分析——-附2例世界首报染色体异常核型

对217例无精和严重少精症患者外周血淋巴细胞染色体核型进行分析,并采用聚合酶链反应对7例Y染色体结构异常患者的AZFc区进行检测。发现187例无精症患者中检出异常核型77例（41.18%）（其中46,XY,t(6;14)(p21;p13),46,XY,t(8;12)(p21;q24)为世界首报核型）,主要涉及染色体异常（数目异常和结构异常）;染色体异态（Y染色体异态和9号染色体臂间倒位）及46,XX性反转;30例严重少精症患者中检出异常核型4例（13.33%）（结构异常和46,XX性反转）。由此可见,性染色体数目和结构异常是精子发生障碍的主要原因,其次常染色体的某些断裂点也可能影响精子发生。AZFc区的缺失与否与精子发生也有直接关系。     

131例原发性闭经女性的细胞遗传学分析(含世界首报异常核型3例)

原发性闭经是一种原因复杂的疾病, 染色体异常则是发病的主要原因。通过对131例原发性闭经患者的外周血淋巴细胞染色体的G带核型分析, 发现其中83例为正常女性核型, 占63.36%; 各种异常核型48例,占36.64%, 其中包括3例世界首次报道的异常核型[46,X,t(X;1)(q22;p34); 46,X,t(X;5;6)(p11.2;q35;q16); 46,XX,t(4; 9)(q21;p22),t(6;10)(p25;q25),t(11;14)(q23;q32)]。另外, 将33例Turner’s综合征患者的主要异常体征及核型分布分别与Elsheikh等的报道进行比较, 发现矮身材、蹼颈、后发迹低和肘外翻的发生率与文献资料存在显著差异, 说明东西方Turner’s综合征患者临床体征的表现可能存在差异。通过对2例X-常染色体易位携带者的分析, 认为Xp11.2和Xq22区域可能与原发性闭经有关。     

Delivering noninvasive prenatal testing in a clinical setting using semiconductor sequencing platform

<正>Fetal chromosomal aneuploidies can lead to fetal loss and major birth defects.The best known chromosomal aneuploidy is Down syndrome,or medically termed trisomy 21,where the affected individual has an extra full or partial copy of chromosome 21.The extra copy of genetic material is the culprit for causing developmental problem for affected individuals.Three types of Down syndrome exist:trisomy 21 accounts for 95%of cases,translocation accounts for about 4%and mosaicism accounts for about 1%.Less common chromosomal aneuploidies include Edward syndrome(trisomy 18),Patau syndrome(trisomy 13),Turner syndrome(45,X),Klinefelter syndrome(47,XXY),and 47,     

一例罕见的t(6;18) del(18）综合征

Gouw 等于1973年首次报道了t(6; 18) (p22;g12）病例。同年，Nakagme等也发现 了t(6;18)(g27;qll）核型。迄今国外共发现 至少9种关于t(6;18）核型。而国内尚未见公 开报道。     

雀形目八种鸟核型的比较研究A

本文分析了雀形目8种鸟的核型,并与已报道的资料进行了比较。结果表明, 近缘种间及属间核型差异不大,从而支持了鸟类核型在进化过程中有较强保守性这一观点。 Abstract:The karyotypes of 8 species of Passerine birds were studied and compared with the data reported before.The result showed that the difference of karyotypes between relative species of genera is not obvious,thus providing the hypothesis that bird karyotype is exceedingly conservative in the course of evolution.     

遗传性平衡易位t(3; 22) (p21; q13）家系

本文报道一例t(3; 22) (p21; q13）平衡 相互易位的家系。先证者，男性，一岁半，淋巴 细胞及皮肤成纤维细胞G带分析结果：核型均 为46, XY, t(3; 22)(p21；q13）或46, XY,t(3; 22)(3gter” 3p21：：22813” 22gter；2 2 pter” 22gl3::3p21” 3 pter )；先证者母亲（图1）与 外祖母核型均为46, XX, t(3; 22)(p21; q13) 或46, XX, t(3; 22)(3gter、3p21：:22813一 22gter; 22pter～ 22813：:3p21一3pter)。经银 染与G带复合显示技术，先证者及母亲的22der 可见清晰的AgNOR区。先证者的父亲与舅父 G带分析核型正常。在此情况下，有生育正常 婴儿的可能，但必须作产前诊断。     

一例罕见的t(6;18) del(18)综合征

Gouw等于1973年首次报道了t(6;18)(p22;q12)病例。同年,Nakagme等也发现了t(6;18)(q27;q11)核型。迄今国外共发现至少9种关于t(6;18)核型。而国内尚未见公开报道。 作者从遗传咨询门诊病人中,检出一例至今未见报道过的t(6;18)del(18)综合征患者。现简要报告如下。     

六种鸟核型的比较研究

本文报道了|HENG|形目和雀形目6种鸟的核型, 并与已报道的近缘种类进行了比较。结果表明,除个别情况外,种间及属间核型差异不大,这些差异主要是由臂间倒位导致着丝点位置的改变而形成的,从而支持了鸟类核型在进化过程中有较强的保守性这一观点。 Abstract:The karyotypes of 6 species in Charadriiformes and Passeriformes birds were studied they were compared with ralative species that were reported before.The results showed that there were no differences of karyotypes among species and genera,except some special species.The differences were mainly due to the change of centrometric position which was caused by the pericertric in version.Therefore,the results again prove the hypothesis that bird karyotype is exceedingly conservative in the course of evolution.     

六种麻蜥核型的研究

报道麻蜥属(Eremias ,Lacertidae) 6种15个不同居群的染色体核型及银分带核型。丽斑麻蜥（E. argus）、快步麻蜥(E. velox)、敏麻蜥(E. arguta)、密点麻蜥(E. multiocellata)、网纹麻蜥（E. grammica ）的核型一致：2n=38=36I+ 2m,NF=38;虫纹麻蜥（E. vermiculata） 2n=38=12V+2sI+22I+2m, NF=50。中国麻蜥属的核型可分为3个类型：（1）丽斑麻蜥型（2）山地麻蜥(E. brenchleyi)型（3）虫纹麻蜥型。虫纹麻蜥核型演化有两种可能性（1）经历三倍体阶段,并通过罗伯逊易位形成;（2）通过染色体臂间倒位形成,倒位成因可能和天山山脉以及青藏高原的隆起有关。密点麻蜥、快步麻蜥、敏麻蜥、网纹麻蜥、虫纹麻蜥均观察到一对NOR于一对较小染色体对上。雌雄个体中均未发现性异型染色体。Abstract: Based on the Giemsa-dyeing karyotypes and silver-staining bands of 15 populations from different localities in China belonging to 6 species of the genus Eremias , We found all species studied have 19 pairs of chromosomes, the size of chromosomes reduces gradually and there are no marked differences between the arranged pairs of macrochromosomes except the last pair of microchromosome. There are the same karyotype formula as 2n=38=36I+2m with NF=38 in E. argus、 E. multiocellata、 E. velox、 E. arguta and E. grammica; but the karyotype formula of E.vermiculata is different as 2n=38=12V+2sI+22I+2m with NF=50. The NOR are all located on one small pair in female of E. velox, and E. arguta , in male of E. grammica and E. vermiculata ,and in both male and female of E. multiocellata. We have not found two or more than two pairs of NOR. Having one pair of NOR may be common in Genus Eremias and also the trait of Eremias. We speculate that the derivation of the karyotype of E.vermiculata had two possible way: one experienced the stage of triploid, and later the Robertsonian transposal of chromosomes; the other way was through the inversions between the arms on the chromosome and the phenomenon of inversions might occur during or subsequently after the upheaval of the Tibet and Qinghai plateau and the founding of the Tianshan . With regard to the trend of the evolution of chromosomes in the lizards [1], the karyotype of E.vermiculata is more advanced. Making specialties of E. vermiculata will help in building the phylogenic tree of Eremias. In both male and female of the species studied, the heteromorphic sex-chromosomes were not found.     

Genetic aberration in primary hepatocellular carcinoma：correlation between p53 gene mutation and loss—of—heterozygosity on chromosome 16q21—q23 and 9p21—p23

To elucidate the molecular pathology underlying the development of hepatocellular carcinoma (HCC),we used 41 highly polymorphic microsatellite markers to examine 55 HCC and corresponding non-tumor liver tissues on chromosome 9,16 and 17.Loss-of-heterozygosity(LOH) is observed with high frequency on chromosomal region 17p13(36k/55,65%),9q21-p23(28/55,51%),16q21-23(27/55,49%) in tumors.Meanwhile,microsatellite instability is rarely found in these microsatellite loci.Direct sequencing was performed to detect the tentative mutation of tumor wuppressor genes in these regions:p53,MTS1/p16,and CDH1/E-cadherin.Wihin exon 5-9 of p53 gene,14 out of 55 HCC specimens(24%) have somatic mutations,and nucleotide deletion of this gene is reported in HCC for the first time.Mutation in MTS1/p16 is found only in one tumor case.We do not find mutations in CDH1/E-cadherin.Furthermore,a statistically significant correlation is present between p53 gene mutation and loss of chromosome region 16q21-q23 and 9p21-p23,which indicates that synergism between p53 inactivation and deletion of 16q21-q23 and 9p21-p23 may play a role in the pathogenesis of HCC.     

复杂染色体重排的女性携带者与她健康的女儿

一例新生复杂染色体重排的女性携带者（complex chromosome rearrangement ,CCR）,易位涉及1号、5号和12号染色体。病人因2次自然流产而要求进行外周血淋巴细胞G显带核型分析。最初G显带核型疑为46,XX,t(1;5;12)(1pter→1q25::12q24→12qter;5qter→5p11::1q25→1qter;12pter→12q24::5p11→5pter).经荧光原位杂交（FISH）技术检测,证实患者的核型为46,XX,t(1;5;12)(1pter→1q23::12q22→12qter;5qter→5p11::1q25→1qter;12pter→12q22::1q23→1q25::5p11→5pter).7年后病人再次妊娠,并拒绝产前诊断。女婴足月分娩,生长发育正常。核型为46,XX。比较以前报告的女性复杂易位携带者与我们报告的病例可以认为,CCR并不总是表现为自然流产或分娩畸形儿,仍有机会生出正常的孩子。Abstract: We reported in the paper one case of a de novo complex chromosomal rearrangement (CCR) involving three different chromosomes,1, 5 and 12. Two pregnancies of the female carrier over three years resulted in two spontaneous abortions. Initial cytogenetic analysis of her peripheral lymphocyte by G banding suspected a karyotype 46,XX,t(1;5;12)(1pter →1q25::12q24→12qter;5qter→ 5p11::1q25→1qter;12pter →12q24::5p11→5pter). Fluorescense in -situ hybridization (FISH) was used to confirm the karyotype 46,XX,t(1;5;12)(1pter→1q23::12q22→12qter;5qter→5p11::1q25→1qter;12pter→12q22::1q23→1q25::5p11→5pter). Seven years later she was pregnant again and refused to have prenatal diagnosis. The fetus is normal both in phenotype and karyotype。Comparing previously reported female CCR carriers with the case, we conclude that female CCR carriers may not always present spontaneous abortion or have offspring with congenital malformation and can have chance to get a healthy child.     

河南地区新生儿染色体畸变的流行病学调查

为了解河南地区群体染色体畸变发病率情况,研究可能与染色体畸变有关的 因素及再现风险。综合运用多种现代细胞遗传学技术对3068例新生儿进行染色体核型分析,并对染色体核型异常者进行家系分析、再现风险及病例对照研究。结果表明:河南地区新生儿染色体畸变发生率为2.74%;其中13.1%由亲代遗传,86.9%为子代新生突变;病例组84例中有46例再次生育,再现染色体畸变8例,染色体畸变再发生率为17.39%;孕妇高龄、异常妊娠史、妊娠期间致畸因素接触史及胎儿宫内发育迟缓等可能是新生儿染色体畸变的高危因素。 Abstract:To investigate the incidence of chromosomal aberrations and recurrence risk in Henan and inqure into the risk factors resulting in newborn chromosomal aberrations,3 068 newbors were karyotyped with several advanced cytogenetic methods.The result showed the incidence of chromosomal aberrations was 2.74%(84cases),only 13.1% out of 84 aberrations were transmitted from the previous generation and 86.9% arose de novo.Within 46 second babies being born after their sibling with chromosomal aberrations,8 were abnormal karyotypes,the recurrence rate was 17.39%.The case-control study showed mothers with advanced age,mothers exposure to detrimental factors in pregancy and mothers with abnormal reproductive histories,intranter growth retardation may be the risk factors resulting in chromosomal aberrations.     

135例无精症患者的细胞遗传学分析：附1例世界首报染色体异常核型

本文对来我室咨询的１３５例无精症患者进行了细胞遗传学分析,发现异常核型３８例,其中４７,ＸＸＹ,ｔ（６;９）（ｐ２１;ｑ２２）为世界首报核型。本文对异常核型与无精症之间的关系进行探讨