染色体结构异常

其中6例（54.5%）涉及X染色体结构异常。

54.5 % of these cases involve the structural rearrangement of X chromosome .

RFLPs研究三例X染色体结构异常的起源和形成机理

RFLPs Study of Parental Origin and Mechanism of 3 Cases with X Chromosome Structural Abnormality

【目的】研究伴染色体结构异常的骨髓增生异常综合征（MDS）患者的临床和实验室特点。

【 Objective 】 To study the clinical and laboratory features of myelodysplastic syndromes ( MDS ) patients with chromosomal structural changes .

结果Turner综合征的核型可分为4类，即单一型、嵌合型、X染色体结构异常及含Y染色体核型；

Results The karyotype of TS could be divided into 4 groups : 45 , XO ; mosaicism ; with aberration of X chromosome structure and with Y chromosome .

为便于对间期细胞染色体结构异常的识别，作者开展了对早熟凝缩染色体技术（PCC）与荧光原位杂交技术（FISH）二者相互结合起来的研究。

To facilitate the recognition of structural aberrations in interphase cytogenetics a study was performed in which premature chromosome condensation ( PCC ) was combined with fluorescent in situ hybridization ( FISH ) .

未发现研究对象染色体结构异常。

No abnormal chromosome structure in the patients was found .

结果在454例特发性生精异常患者中有23（5.1%）例涉及常染色体结构异常，40（8.8%）例涉及染色体多态性。

Results : The proportion of autosomal structure abnormalities was 5.1 % ( 23 / 454 ) among the patients with idiopathic oligospermia and azoospermia , while that of chromosomal polymorphism was 8.8 % ( 40 / 454 ) .

染色体结构的异常较为少见。

However , structural chromosome aberrations are not common .

结论FISH是一种在分析CLL染色体数目和结构异常方面较为快速、准确和敏感的方法，可为CLL的研究提供较为准确的分子遗传学信息。

Conclusion FISH is a more rapid , accurate and sensitive technique in analysis of chromosome aberrations in CLL . FISH may provide accurate information of molecular cytogenetics for CLL .

应用双色荧光原位杂交的方法，国内首次报道一例特殊inv（Y）异常的性质，探讨Y染色体倒位结构异常的形成机理以及与习惯性流产临床表型的关系。

We report for the first time in China , the characterization of a special abnormal inv ( Y ) with dual-color fluorescence in situ hybridization ( D-FISH ) .

结果表明大多数病人有染色体数目和结构异常。

Numerical and structural chromosomal abnormalities were found in most patients .

染色体末端微小结构异常的分子细胞遗传检测

Molecular Cytogenetic Detection of Minute Chromosomal Structural Abnormality on the Chromosomal Terminal Regions

长期的国内外相关研究表明，胰腺癌的染色体数目与结构异常极为复杂。

The numerical and structural chromosomal aberrations from pancreatic cancer are very complex from the studies of past years .

结果：在无精子症与严重少精子症患者中染色体数目与结构异常发生率分别为12.6%与8.3%。

Results : In the azoospermic and severe oligozoospermic patients , the incidences of chromosomal abnormality were ( 12.6 ) % and ( 8.3 ) % ;

染色体结构和数目异常引起的遗传病，包括染色体的重复、丢失和重排等。

Chromosome disorder & A clinical condition caused by an abnormal chromosome constitution in which there is duplication , loss , or rearrangement of chromosomal material .

导致早期流产的病因多且复杂，50%～60%的早期流产是受精卵的染色体数量或结构异常所致的。

The etiology of leads to early abortion much and complex , 50 % to 60 % of the zygote early abortion is caused by chromosome number or abnormal structure .

结果：发现47例染色体结构或数目异常，占受检人数的8.4%，其中常染色体异常39例，性染色体异常8例。

Results : The results showed 47 cases had abnormal chromosome , accounting for 8 4 % of the total cases . Among them there were 39 cases of abnormal euchromosome , 8 cases of abnormal sex chromosome .

但在高癌组中查到1.6%和3.25%具有染色体数目和结构异常的细胞，与低癌组比较有非常显著的差别（P<0.01）。

In the high risk group , 1.6 % of the cells showed numerical aberrations and 3.25 % structural aberrations , while the corresponding figurs for the low risk group were 0.5 % and 0.72 % respectively ( p < 0.01 ) .

花粉母细胞减数分裂正常，在终变期和中期Ⅰ观察到9个二价体，未观察到染色体结构变异和行为异常。

Bivalents had been observed during diakinesis and metaphase I. No abnormal phenomena such as chromosome bridges and lagging were observed .

结果：152例无精症患者中，55例的染色体结构或数目发生异常，占36.18%，其中以性染色体异常为主。

Results : Among the 152 cases with azoospermia , abnormalities in chromosomal structure and number , which were particularly in sex chromosomes , were found in 55 ( 36.18 % ) cases .

[结论]无论是染色体数目异常还是染色体结构异常，都可导致先天畸形、智力低下、流产、不孕和生长发育障碍等。

[ Conclusions ] The abnormal chromosome number or structure will result in congenital malformation , hypophrenia , abortion , infertility and growth obstruct .

染色体易位是常见的染色体结构异常。

Chromosomal translocation is a kind of common chromosomal abnormality .

费城染色体的研究表明：染色体结构异常能引起基因表观遗传学改变，促进肿瘤发生、发展。

The Philadelphia Chromosome further confirms that chromosomal rearrangements can result in epigenetic alterations and promote the initiation and development of cancers .

染色体异常包括X染色体数目及结构异常，46，XY、45，X0/46，XY以及常染色体结构异常。

The reported ( abnormalities ) included the numeric and structural abnormalities of X chromosome , 46 , XY , 45 , X0 / 46 , XY , and the structural abnormality of autosome .

其中X染色体数目异常3例，X染色体结构异常10例。

Among them , 3 cases were numeral abnormalities of X chromosome and 10 cases were structural abnormalities of X chromosome .

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

应用染色体涂染技术对五例染色体结构异常病例的分析

Application of chromosome painting to analysis of structural aberration in five cases

结果14例AML患者应用常规细胞遗传学技术共检出23种染色体的数量异常和56种染色体的结构异常。

Results In the 14 cases of AML studied , conven - tional cytogenetics detected 23 numerical and 56 structural chromosome abnormalities .

结论染色体异常，尤其是性染色体数目和结构的异常是造成男性不育的重要原因。

Conclusion Chromosomal abnormalities , especially structural and numeral abnormalities of sexual chromosome , are important cause of male infertility .

目的：摸索空间环境诱变后肿瘤细胞和生物工程细胞的染色体制备方法，分析染色体数目、结构的异常变化。

Objective : To investigate the method of chromosome preparation of tumor cells and bio-engineering cells mutated by outer space , and to analyze the abnormal changes of number and structure of chromosomes . Method : Tumor cell lines and bio-engineering cell lines were carried in the No.