结构异常

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

结论膀胱癌EMA-CD44v6+亚群细胞有起始和维持肿瘤的能力，具有肿瘤干细胞特性；膀胱癌干细胞相关Bmi-1基因有结构异常，基因修复对降低EMA-CD44v6+亚群细胞的致瘤能力有一定效果。

Bladder cancer stem cells-related Bmi-1 gene has a structural abnormality and genetic repair can reduce the ability of EMA-CD44v6 + subset cells in tumorigenic .

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 .

抑郁症、精神分裂症脑结构异常的MRI研究

Structural brain abnormalities in patients with depression and schizophrenia : a MRI study

基于PE文件结构异常的未知病毒检测

Unknown Virus Detection Based on Exceptional PE File Structure

提示哮喘时存在PS超微结构异常。

These indicate that there are abnormal ultrastructures of PS in asthma .

fas基因和p53基因在瘢痕疙瘩成纤维细胞中的结构异常与其功能的关系

Abnormal structure of fas and p53 gene in keloid-derived fibroblasts and their function

而此种改变的主要成因在于气道的持续性损伤和结构异常，即所谓气道重构（airwayremodeling）。

The reason is durative airway damage and fabric abnormity . This is airway remodeling .

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 .

未发现GRα基因外显子9有结构异常。

Abnormality in GR α gene exon 9 was not detected .

本文用显微切割，PCR技术和染色体绘画技术，构建了人类第七号染色体特异性探针池，并完成了一个7号染色体结构异常患者的家系分析。

We constructed a chromosomal specific probe pool from human chromosome No. 7 using the techniques of chromosomal microdissection , PCR and chromo -

结论山医群体近交系中国地鼠G显带的识别为结构异常和基因作图提供了科学依据。

Conclusion The discernment of G - banding pattern of an inbred line of Chinese hamster is for providing scientific basis to study on abnormal structure and gene map .

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 .

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 .

【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 .

3种剂量处理组睾丸生精细胞核超微结构异常发生率显著高于对照组（P0.05），且随着处理浓度的升高异常发生率升高；

In three treated groups , the abnormal rate for the ultrastructure of spermatogenic cell nucleus is much higher than that of the control ( P0.05 ), more changes with concentrated cadmium .

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 .

结果共检出15例性染色体异常患者，异常率为40.5%，其中X染色体数目异常10例，结构异常3例，含Y染色体有2例。

Results 15 patients with chromosomal abnormalities , including 10 cases of X chromosome aneuploidy , 3 with structural abnormalities , and 2 with Y chromosome , were found . The ratio of abnormality was 40.5 % .

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 ) .

结论：PCOS患者窦状卵泡自身卵母细胞结构异常导致卵泡未能发育成熟为优势卵泡，是顽固性PCOS患者不孕的主要因素之一。

Conclusions : The abnormality in oocyte itself cause that the antral follicle fail to develop dominant follicle is one of the main reasons for some PCOS women with refractory infertility .

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 .

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 .

传统的染色体检查方法为G显带染色体核型分析技术，虽然可以检测整套染色体的数目和明显的结构异常，但其分辨率有限，对于片段长度小于5Mb的不平衡畸变则难以检出。

Although a conventional cytogenetic analysis by G-banding can detect numerical aberrations and some apparent structural aberrations , it cannot detect deletions or duplications smaller than 5 Mb .

FFA发现黄斑结构异常6例（占17.14%），包括神经上皮层脱离4例、色素上皮层脱离1例、黄斑囊样水肿1例。

Subjects ( 17.14 % ) of them had abnormal macular structures , including : neuroepithelium detachment 4 subjects , pigment epithelium detachment 1 subject and cystoid macular edema 1 subject .

其发病的主因是患者存在膝关节解剖结构异常，如Q角增加、髌骨高位、股骨外髁发育不良、髌骨形态异常、股直肌内侧头萎缩或股直肌外侧头肥大等。

Anatomical abnormalities should be responsible for the condition , such as increased Q angle , a high-riding patella , dysplasia of the femoral condyles , abnormal shape of the patella , atrophy of the vastus medialis and hypertrophy of the vastus lateralis .

结论胆囊管解剖结构异常不是Mirizzi综合征的主要原因；

Conclusion The anatomical deformity of cholecystic duct is not major cause of Mirizzi syndrome , nor cholecystic stone or stone obstruction is only cause .

胃癌中微血管形态结构异常，微血管密度（MVD）高于胃慢性良性病变和癌旁正常组织（P<0.01）。

The MVD of gastric carcinoma was higher than that of normal gastric tissue beside carcinoma and that of gastric benign lesions ( P < 0.01 ), Moreover , the shape and structure of microvessel was abnormal .

单纯+8（10例）为最常见的数目异常；结构异常最多见的是inv（16）（5例）；

Isolate trisomy 8 ( 10 cases ) was the most common abnormality and inv ( 16 ) ( 5 cases ) was the most frequent structural abnormality .

结果按IVU肾显影情况分为三组：第一组21例，为肾功能正常，肾或输尿管及膀胱形态结构异常者。

Results All the patients were classified into three groups : in the first group including 21 patients with normal renal functions , questions were raised that could not be answered on IVU .

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 ) .