罗伯逊易位

家猪13/17罗伯逊易位染色体着丝粒DNA的FISH检测

Detection of 13 / 17 Robertsonian Translocation Chromosome Centromeric DNA by FISH in the Domestic Pig

从F1的染色体组型、G带、C带和Ag-NORs的观察表明，F1双亲鹿的染色体高度同源，差异只涉及一个罗伯逊易位；

Observation from karyotype , G-banding pattern , C-banding pattern and Ag-NORs of hybrid F_1 showed that chromosomes of F_1 parents were high homologous except one Robertsonian translocation .

在32个主要异常包括19染色体号相互易位，9号染色体罗伯逊易位，一个大的倒位，两个三条X染色体的女性，和一个特纳嵌合体。

The32 major anomalies consisted of19 reciprocal translocations , 9 Robertsonian translocations , one large inversion , two triple-X females , and one Turner mosaicism .

目的探讨植入前遗传学诊断（Preimplantationgeneticdiagnosis，PGD）用于筛选罗伯逊易位携带者无遗传缺陷后代的可行性及风险。

Objective To investigate the feasibility and risk of preimplantation genetic diagnosis ( PGD ) for screening normal offspring of Robertsonian translocation carriers . Methods This case was clinically diagnosed as primary infertility for 6 years ;

13/17罗伯逊易位纯合子、杂合子猪及3个引进品种核仁组成区（Ag-NORs）的多态性

Polymorphism of Chromosome Ag NORs in Homozygous and Heterozygous Pigs of 13 / 17 Robertsonian Translocation , Landrace , Yorkshire and Duroc

猪13/17罗伯逊易位染色体的显微分离与微克隆研究

Microdissection and Microcloning of Swine 13 / 17 Robertsonian Translocation Chromosome

罗伯逊易位携带者胚胎植入前遗传学诊断

Preimplantation genetic diagnosis for Robertsonian translocation carriers with fluorescence in situ hybridization

结果：132例自然流产患者中检出3例罗伯逊易位携带者。

Results : 3 Robertsonian translocation carriers were found in 132 cases .

其他异常为罗伯逊易位2例。21三体8例。

Cases were Robertsonian transloeation , 8 cases were 21-trisomy .

13/17罗伯逊易位猪生长抑素基因的多态性研究

Polymorphism Research of Somatostatin Gene in 13 / 17 Robertsonian Translocation Pigs

一个罗伯逊易位t（13；14）家系的细胞遗传学研究

Cytogenetic studies on a pedigree with Robertsonian translocation of chromosomes 13 and 14

种公牛1/29染色体罗伯逊易位的检测结果及其遗传效应分析

The Observation on Chromosome 1 / 29 Robertsonian Translocation and Genetic effect in Bull

柳州地区遗传咨询者罗伯逊易位核型与临床表现上海地区6709例遗传咨询者外周血淋巴细胞染色体分析

Robertsonian translocation caryotype and clinical manifestation Karyotype analysis of 6709 cases heredity consultants from Shanghai

全染色体涂抹探针在女性罗伯逊易位携带者植入前遗传学诊断中的临床应用

The clinical application of whole chromosome painting probes in preimplantation genetic diagnosis for translocation carriers

罗伯逊易位研究的进展

Recent Progress in Robertsonian Translocation Study

家猪13/17罗伯逊易位染色体遗传规律的研究

Studies on the Inheritance Law of 13 / 17 Robertsonian Translocation Chromosomes in the Domestic Pig

罗伯逊易位携带者胚胎丢失率高于相互易位携带者。

Concerning Robersonian translocation , its incidence rate of spontaneous abortion was significantly higher than that in reciprocal translocation .

本文还讨论了家猪和野猪的染色体进化，13／17罗伯逊易位染色体的应用。

The chromosome evolution of wild pig and the domestic pig and the applications of 13 / 17 Robertsonian translocation chromosomes were discussed .

结果检出染色体平衡易位携带者35例：常染色体相互易位25例，罗伯逊易位9例，复杂易位1例。

Results 35 cases of balanced translocation were discovered ( 25 cases of reciprocal autosomal translocation ; 9 cases of robertsonian translocation ; 1 case of complex translocation ) .

种内的核型分化与染色体的结构变异有关。主要表现为臂间倒位、罗伯逊易位和或不等相互易位。

Obvious karyotypic differentiation among the populations , which was highlighted by chromosomal aberrations , including mainly pericentric inversion and the Robertsonian or unequal reciprocal translocations , was detected .

结果：检出异常染色体核型13例，占受检夫妇人数的5·7%，异常核型中，平衡易位最多，占异常总数的76·92%，其中相互易位10例，罗伯逊易位3例；

Results : 13 cases of abnormal karyotypes were detected ( 5.7 % ) . Balanced translocations had the most abnormalities ( 76.92 % ), including 10 balanced reciprocal translocations and 3 balanced Robertsonian translocations .

结果发现染色体异常核型38例，异常发生率为3.2%。其中平衡易位31例（相互易位16例，罗伯逊易位15例），臂间倒位6例，嵌合体1例；

Results There were 38 chromosome aberrations ( 29 women , 9 men ) in them , the abnormal rate being 3.2 % , including 31 balanced translocations ( 16 reciprocal translocations , 15 Robertsonian translocations ), 6 pericentric inversions , and 1 mosaic .

相互易位、非同源罗伯逊易位、同源罗伯逊易位3组，活产缺陷儿比率分别为5.7%（20/350）、10.9%（14/128）、8.0%（2/25），3组间相互比较，差异有统计学意义（P<0.05）；

In reciprocal translocations , nonhomologous Robertsonian translocations and homologous Robertsonian translocations , the birth defects rates were 5.7 % ( 20 / 350 ), 10.9 % ( 14 / 128 ) and 8.0 % ( 2 / 25 ), respectively ( P < 0.05 ) .