46,XY单纯性腺发育不全的治疗(附2例报告)

目的 探讨46,XY单纯性腺发育不全病人的病因、临床表现及治疗方法 .方法 对2例染色体核型为46,XY单纯性腺发育不全病人的临床资料进行分析.结果 2例病人的生长和智力发育均正常,两臂与地平行伸展开两手中指的距离等于身高.原发闭经,青春期有女性第二性征发育,有阴毛、腋毛,乳房发育可.病人均有阴道, 行人工周期月经治疗有效.2例行腹腔探查术,术中均可见到发育不良的子宫、发育欠佳的输卵管、条索状性腺组织以及实性包块.手术切除包块及条索状性腺组织,病理诊断均为无性细胞瘤.结论 对生殖器官发育不良病人应常规行染色体检查;对46,XY单纯性腺发育不全病人应尽早切除性腺,通过性激素替代治疗提高病人生活质量.     

Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;q11)

The case of a 6-year-old boy with bilateral retinoblastoma (RB) and apparently de novo balanced translocation t(2;9)(q11;p11) is presented. The normality of 13q14 chromosome region has been confirmed using high resobution techniques and Esterase D assay.The hypothesis that this RB might be correlated to the translocation is discussed.P.B. is a resident geneticist at the Centre de Génétique Médicale     

良性家族性婴儿惊厥疾病基因与染色体8q24的连锁分析

目的 :对 5例中国良性家族性婴儿惊厥 ( BFIC)家系进行基因定位研究。方法 :选择 D8S50 2 、D8S537等 STR作为 DNA标记 ,应用聚合酶链反应 ( PCR) ,变性聚丙烯酰胺凝胶电泳 ( PAGE)和银染技术 ,采用 LINKAGE软件包中的 MLINK程序进行连锁分析。结果 :在常染色体显性 ( AD)模式下 ,在标记位点 D8S50 2 处 ,5个家系在重组率为 0 .0 5 0 ,外显率为 70 %时 ,获得两点对数优势计分 ( LOD)值总和为 0 .337;在标记位点 D8S537处 ,5个家系在外显率为 70 % ,重组率从 0 .0 0 0到 0 .40 0之间 ,获得两点 L OD值总和均为负值。结论 :不能认为位点D8S50 2 和 D8S537与 BFIC疾病基因存在连锁关系     

不同直径的骨移植物中骨细胞转归的实验研究

目的观察不同直径的骨移植物修复骨缺损过程中,供体骨内细胞转归的情况。方法近交系DA大鼠174只,其中雄性大鼠58只,作为供体;雌性大鼠116只,作为受体。将受体随机分为块状骨组、颗粒骨组和空白对照组,建立大鼠桡骨骨缺损模型,取雄性大鼠髂骨为供体骨,分别制成直径为2mm的骨块和直径为0．3～0．5mm的颗粒骨,植入骨缺损,分别于术后1、4d和1、2、4、6、10周取材,采用聚合酶链反应技术观察受体骨组织中Y染色体性别决定基因（Sry）的表达情况并观察各组的组织学改变。结果块状骨组在移植早期Sry的表达逐渐减少,至1周消失。4周后再次出现,并且随时间延长表达逐渐增多;颗粒骨组Sty的表达随时间延长逐渐减少,但各时间段均有Sty的表达。在同一时间点,颗粒骨较块状骨有更多的骨细胞存活,其成骨效果优于块状骨。结论不同直径的骨移植物修复骨缺损时均有供体骨细胞参与,但颗粒骨内有更多的骨细胞存活,这些骨细胞参与骨缺损修复的各个阶段,并能加速骨缺损的修复,为临床上修复骨缺损和脊柱融合提供了新的有效的方法。     

Noninvasive detection of alterations in chromosome numbers in urinary bladder cancer cells,using fluorescence in situ hybridization

Background Bladder cancers have a high potential for recurrence and sometimes become invasive even in superficial cases. In this process, gene mutations in tumor suppressor genes such as p53, on chromosome 17, or p16, on chromosome 9, are thought to be important. In order to investigate whether the detection of alterations in chromosome number might be used as an alternative to invasive techniques for the assessment of clinical bladder cancer, fluorescence in situ hybridization (FISH) was employed to analyze chromosome numbers in a series of patients.Methods A total of 40 patients with transitional cell carcinomas (stages Ta to T4, including carcinoma in situ [CIS]) were examined for abnormal numbers of chromosomes 9 and 17, by FISH, using 41 and 42 samples of voided urine, respectively. Tumor grades were as follows: G1:G2:G3 = 4:21:17. Urinary cytology and presence of bladder tumor antigen (BTA) were also checked in the same samples. One hundred cells were examined in each sample, and abnormality was concluded to be present when more than 20% of cells demonstrated polysomy (defined as three or more chromosomes).Results Seventeen of 41 samples (41.5%) were abnormal with regard to chromosome 9, and 17 of 42 (40.5%) were abnormal for chromosome 17. Both chromosomes were affected in 13 cases, of which 8 were positive for urinary cytology and BTA. Univariate analysis, performed with urinary cytology, BTA, tumor grade, tumor stage, involvement of vessels, pattern of invasion, number of tumors, and prognosis as parameters, demonstrated a significant influence of urinary cytology (P = 0.0368 and P = 0.0278 for chromosomes 9 and 17, respectively), BTA (P = 0.0094 for chromosome 17), involvement of vessels (P = 0.0262 for chromosome 17), pattern of invasion (P = 0.0028 and P = 0.0327 for chromosomes 9 and 17), grade (P = 0.0213 and P = 0.0174 for chromosomes 9 and 17), and stage (P = 0.0457 for chromosome 17). All the other parameters also tended to be linked with the changes in chromosomes, except for tumor number. Multivariate analysis demonstrated significant differences for tumor grade (P = 0.0166) and pattern of invasion (P = 0.0006) for chromosome 9.Conclusion Voided-urine FISH is an effective noninvasive method for the detection of altered chromosome numbers in bladder cancer cells, and may provide an indication of tumor progression when combined with urinary cytology and BTA.     

The child with developmental delay: An approach to etiology

OBJECTIVE:

To describe an approach to history, physical examination and investigation for the developmentally delayed child.

METHODS:

A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation.

CONCLUSIONS:

A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features.     

28例原发性胃癌的直接染色体分析和荧光原位杂交检测

目的 检测原发性胃癌的染色体畸变,分析这些变化在胃癌发生和发展中的作用。方法 用改良的实体瘤染色体直接制备法,对２８例原发性胃癌染色体进行Ｇ显带分析。在此基础上建立了一种Ｇ显带后脱色,再进行荧光原位杂交（ＦＩＳＨ）的方法,从分子水平上证实染色体ＤＮＡ的变化。结果 病例１,２具有简单染色体数目改变,核型分别为４９,ＸＹ,＋２,＋８,＋９和４７,ＸＸ,＋８,＋２０,其余２６例原发性胃癌的染色体改变复杂     

A RE-INVESTIGATION OF AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

ABSTRACT. Eeg-Olofsson, O. and Liedgren, S. (Departments of Paediatrics and Gynaecology and Obstetrics, University Hospital, Linköping, Sweden). A re-investigation of an inherited chromosome aberration in a girl with signs of de Lange syndrome. Acta Paediatr Scand, 70:575,.–An earlier report in this journal (1968) dealt with an inherited chromosome aberration in a girl with signs of de Lange syndrome and her family. A translocation between a 13–15 and a 4–5 chromosome, with the unbalanced proposita having an additional segment from one end of a 13–15 chromosome was found. A 6–12 chromosome involvement could not be excluded. The mother and two phenotypically normal sisters had a balanced karyotype. With modern technique a more complex translocation has been found. A part of one chromosome no. 5 is translocated to one chromosome no. 9, a fragment of this chromosome is probably translocated to one chromosome no. 13, and a part of this one is translocated to the first-mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita in addition has two normal chromosomes no. 13. Thus she has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families in order to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.     

表皮生长因子受体蛋白过度表达和7号染色体多倍体在复发膀胱癌中的相关性

目的探讨表皮生长因子受体(EGFR)蛋白过度表达和7号染色体多倍体在预测膀胱癌复发中的作用及相关性。方法采用免疫组织化学SP方法,检侧经病理证实的25例复发和15例未复发浅表性膀胱癌石蜡切片组织中EGFR的表达,再应用7号染色体荧光探针,通过细胞核荧光原位杂交(FISH)反应,分析7号染色体数目异常增多的拷贝数。结果25例复发膀胱癌(RC)中,EGFR过度表达和7号染色体多倍体分别有13例和16例;15例未复发膀胱癌(NRC)中,EGFR过度表达和7号染色体多倍体分别有4例和3例,两组间EGFR过度表达和7号染色体多倍体的发生率差异均有统计学意义(P<0.05);相关分析显示,两者存在相关性(P<0.05,r=0.6)。结论EGFR蛋白过度表达和7号染色体多倍体在复发膀胱癌中可能存在相关性,在检测EGFR表达的基础上行7号染色体多倍体的检测可能是检测膀胱癌复发的一种有效手段。     

Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas

Summary The four permanent human glioma-derived cell lines reported here are the first such lines for which the karyotypes have been followed from the original biopsies through the establishment of the lines in culture. Although ploidy changes were seen, each line retained either distinctive marker chromosomes or the overall original chromosomal distribution allowing the origin of each line to be established with certainty. D-263 MG expresses glial fibrillary acidic protein, all lines except D-245 MG are tumorigenic in athymic mice, and each line displays a unique pattern with respect to in vitro growth parameters and expression of biochemically defined markers, oncofetal antigens and lymphoid-associated markers. D-245 MG and D-259 MG are able to grow in the absence of supplemental glutamine; glutamine synthetase was detected in these cell lines both by immunocytochemistry and by direct assay. Thus, the four permanent human glioma-derived cell lines described here are representative of glioma lines in their general characteristics. D-259 MG retains numerous double minute chromosomes (DMs), D-263 MG contains two marker chromosomes with breaks in 9p, and D-247 MG and D-245 MG with stemlines containing 96 and 89 chromosomes contain eight and six normal copies (respectively) of chromosome No. 7. The retention in these four cell lines of the most common chromosomal abnormalities seen in biopsies of malignant human gliomas provides the opportunity to investigate the meaning of these specific chromosomal changes.Dedicated to Prof. F. Seitelberger on the occasion of his seventieth birthdaySupported on part by P01 NS0023 from the National Institute of Neurological and Communicative Disease and Stroke, R01 CA11898 from the National Cancer Institute and The Swedish Cancer Society