平衡易位

其中常染色体平衡易位2例，臂间倒位2例，染色体次缢痕增大和G组短臂增加各1例。

Two cases were autosomal balanced translocation and two cases were pericentric inversion . The chromosome secondary constriction in one case became wider and the short arms of G team chromosomes in one case became longer .

遗传性平衡易位t（3；22）（p21；q13）家系

Hereditary Balanced Translocation t ( 3 ; 22 ) ( p21 ; q13 ) Pedigree

一例罕见的X&常染色体平衡易位[46，X，t（Xq~+；15q~-）]伴发自然流产

A Rare Case of Balanced X-Autosome Translation [ 46 , X , t ( Xq ~ + ; 15q ~ - ) ] Associated with Spontaneous Abortion

X-X染色体不平衡易位及DNA复制类型的研究

Study of the DNA Replication Pattern of an Unbalanced Translocation Chromosome in Leukocyte Cultures

一位46，XY，t（11；18）平衡易位携带者的联会复合体分析

Analysis of Synaptonemal Complex from a Carrier with 46 , XY , t ( 11 ; 18 ) Balanced Translocation

结果明确了常规核型（CC）分析中的所有异常，共检出20种结构异常，其中缺失2种，易位18种，均为不平衡易位。

Results Twenty kinds of structural rearrangements were detected by M-FISH including 2 kinds of deletions , 18 kinds of translocations which were all imbalanced rearrangements .

后者均系不平衡易位所致，其中不少被CC误认为染色体部分缺失、不明来源的额外物质、染色体单体和标记染色体等。

The derivative chromosomes resulted from unbalanced translocations , most of which were missed as chromosome deletion , additional material of unknown origin , monosomy and marker chromosome .

结果13例外周血单个细胞染色体畸变的畸变类型可分为平衡易位、倒位、缺失、重复及X染色体单体等，主要临床表现包括性发育异常、死胎流产及肢体畸形等。

Results : The aberration types of 13 cases of individual cell chromosomal aberration in peripheral blood were balanced translocation , inversion , deletion , duplication , and monosomic X. The main clinical manifestations included abnormal sex development , abortion or dead fetus , and limb deformity .

另1例的父亲为平衡易位携带者（14q；21q）。

The father of the other case was a balanced carrier ( 14q ; 21q ) .

结果发现4种新的平衡易位的人类染色体异常核型，分别为46，XX，t（1；6）（q31；p25）；

Result : Four new balanced translocation karyotypes were discovered , they are 46 , XX , t ( 1 ; 6 )( q31 ; p25 );

此外，用常规Giemsa染色分析了800个中期细胞，发现染色体断裂为025%，无着丝粒畸变和不平衡易位均为005%，自发畸变率很低。

In addition , 800 metaphase cells were analysed by conventional Giemsa stain . The results showed that break was 0.25 % , acentric aberration and translocation were 0.05 % . The spontaneous aberration frequencies were very low .

家族性1/3平衡易位细胞遗传学研究

Cytogenetic Studies in a Family with Balanced 1 / 3 Translocation

类平衡易位综合征的发现及临床遗传学研究

Discovery of analogous balanced translocation syndrome and its clinical genetics research

16例平衡易位携带者的妊娠结局

The gestation results in 16 cases of chromosome balanced translocation carrier

平衡易位和倒位携带者对子代的影响

The effect on filial generation of patients balance translocation and inversion

两姊妹习惯性流产&6,9号染色体的平衡易位及家系调查

Habitual abortion of 2 sisters 6,9 balance translocation and family survey

染色体平衡易位与优生研究

Study on chromosomal balanced translocation in strategy of better birth

42例严重少精子症患者检出染色体平衡易位4例，占总数9.5%；

Of 42 oligozoospermia patients showed chromosome structure aberration ( 9.5 % );

对染色体异常检出率、额外小染色体及平衡易位携带者进行了讨论。

Detective rate , small accessory chromosome and balanced translocation are discussed .

产前诊断胎儿染色体平衡易位的处理

Management of fetus with balanced chromosomal translocation during prenatal diagnosis

染色体平衡易位致习惯性流产2例

Two cases of recurrent spontaneous abortions induced by balanced translocation of chromosome

t（2；6）平衡易位家系的染色体分析

Chromosome Analysis in a Family with t ( 2:6 ) Balanced Translocation

胚胎植入前遗传学诊断在平衡易位携带者中的作用

The role for preimplantation genetic diagnosis in balanced translocation carriers

一个染色体平衡易位家系的核型分析

Karyotyping Analysis on A Family with Balanced Translocation of Chromosomes

染色体3/5平衡易位一例报告

A Case Report of Chromosome 3 / 5 Balanced Translocation

X-常染色体平衡易位两例报告

The Report of two Cases with X-autosome Balanced Translocation

五例平衡易位异常核型简报

Five Case Abnomal Karyotype Simple News on Balanced Translocation

染色体9；13平衡易位携带者引起的习惯性流产一例报告

One Case of Chromosome 9 ; 13 Balanced Translocation Carrier Causing Habitual Abortion

一个第1号与第17号染色体平衡易位的家系

A Family with Chromosomes 1 ; 17 Balanced Translocation

目的探讨染色体平衡易位与异常孕产的关系。

Objective To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy outcomes .