额外小染色体与原发闭经(附4例报告)

我们发现4例原发闭经伴额外小染色体病例,其核型分别为;46,XX/47,XX mar;46,X,del(X)/47,X,del(X) mar;47,XX, mar;45,X/46,X, mar/46,X r.作者讨论了mar的发生率、起源、诊断、临床表现及产前诊断等问题.     

204对自然流产夫妇染色体核型分析

目的 分析自然流产与染色体异常核型之间的关系.方法 采用人外周血淋巴细胞培养,常规G显带技术行染色体核型检查,后结合临床资料对其进行分析.结果 204对自然流产夫妇中,检出染色体异常16例(平衡易位15例,罗伯逊易位1例),检出率3.82%,较一般人群的染色体异常率为高,差异有显著性(P＜0.01);检出染色体多态性39例,检出率9.56%;流产例次染色体异常组(2.94±0.85)及多态性组(2.76±1.45)均较正常染色体组(1.05±1.39)为高,差异皆有显著性(P＜0.01).结论 人体夫妇染色体异常是流产的重要原因之一,但染色体多态性方面的因素也不可忽视.对自然流产夫妇进行常规的染色体检查及遗传咨询具有一定的临床意义.     

妇产科常见疾病与染色体核型异常的关系分析

目的 分析染色体核型异常与妇产科常见疾病的关系，探讨流产、死胎、畸胎、不孕、月经不调及青春期发育异常的遗传病因。方法 532例病例，每例行外周血培养，细胞收获，制片及G显带，并行染色体核型分析。结果 532个病例中，共检出异常核型25例，检出率为4．7％，其中异常孕产史和不孕16例，占64％，月经不调和发育异常7例，占28％，其它2例，占8％。结论 染色体核型异常是导致流产、死胎、畸胎及不孕的重要原因之一；染色体核型异常与月经不调、青少年发育异常有密切关系。     

Detection of numerical chromosomal abnormalities in malignant cells on body fluids by fluorescence in situ hybridization of interphase cell nuclei with chromosome-specific probes.

To detect numerical chromosomal abnormalities (NCA) in malignant cells on body fluids, Fluorescence in situ hybridization (FISH) technique was tested in clinical specimens from patients with metastatic disease. Directly labeled DNA probes specific for chromosomes 8, 12, X, and Y (Imagenetics, Naperville, IL) were used for in situ hybridization to interphase cell nuclei. Fifteen body fluids (BF) from various sites were studied. Based initially on the Papanicolaou-stained slides, there were seven malignant and eight benign samples. Blind analysis (200 cells/sample) showed that all benign samples had a normal number of chromosomes, whereas six of seven malignant samples showed different NCA comprising 5-60% of the cell population ranging from three to 10 chromosome signals per cell. We conclude that interphase cytogenetic cell analysis of BF by FISH is: (1) feasible and gives superior signals for detection of NCA, (2) helpful in detecting malignant cells, (3) relatively simple with a turnaround time of less than 24 hr. This method may have diagnostic and prognostic application in the study of the biologic behavior of malignant neoplasms.     

Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree

A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent-1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:1.     

69,XXY伴严重生长迟缓及眼球突出病例的产前诊断

目的分析孕中期血清筛查数据和胎儿彩色多普勒与染色体异常之间的关系。方法对一孕中期血清产前筛查18三体风险1:10,血清Free-hCGβ异常减低(值为1.29ng/ml即0.08MOM),胎儿系统结构检查提示胎儿小于孕周,头腹围比(1.63)大于正常(1.25),上唇连续性中断延至鼻底的孕妇进行羊膜腔穿刺,抽取羊水进行细胞遗传学检查。结果羊水细胞染色体核型:69,XXY。结论中孕期妇女血清Free-hCGβ异常减低和胎儿头胸围发育不同步、胎儿唇腭裂提示胎儿染色体畸变可能,血清和超声联合筛查有助于染色体疾病的检出。     

胎儿泌尿系畸形介入性产前诊断

目的探讨胎儿泌尿系畸形的发生与染色体异常、宫内感染的关系.方法在超声介导下对56例泌尿系畸形胎儿抽取脐带血行染色体核型分析,同时采用多聚酶联反应 (polymerase chain reaction,PCR)方法检测TORCH宫内感染.结果①5例胎儿染色体异常,染色体异常率为8.93%,除1例异常核型为单纯泌尿系畸形外,其余4例均合并有其他器官异常;②胎儿脐血检测发现巨细胞病毒(cytomegalovirus,CMV)感染5例,风疹病毒(rubella virus,RV)感染2例,弓形体(toxoplasma,TOX)感染2例,单纯疱疹病毒 (herpes simplex virus,HSV)感染2例,宫内TORCH感染发生率为19.64%.结论染色体异常是引起胎儿泌尿系畸形的重要原因之一,对所有泌尿系统畸形胎儿应行染色体核型分析;而某些宫内感染,尤其是CMV感染,可能引发胎儿泌尿系统畸形.     

Application of personal computer to an analysis of smallde novo chromosomal insertion: A case ofde novo 3q2 trisomy with ins(8;3)

To identify the origin of a small inserted segment in ade novo 8p+ chromosome, an originally programmed computerized data-base for chromosomal aberration syndromes was utilized. The system selected 3q2 trisomy and 10q2 trisomy as candidates. As a result of a careful comparison of several high-resolution banding patterns among chromosomes 3, 10 and the inserted segment, her karyotype was disignated as: 46,XX,–8,+der(8), inv ins(8;3)(p21.1;q26.32q24)de novo. A small segment from 3q24 to 3q26.32 was trisomic, and invertedly inserted into the short arm of chromosome 8. This computerized database was considered to be useful for analyses of the smallde novo inserted chromosomal segment.     

Infrequent genetic alterations of the PTEN gene in Japanese patients with sporadic prostate cancer

Prostate cancer is a major cause of cancer death among elderly men in America, Europe, and Japan. However, the molecular mechanism of carcinogenesis is not yet well characterized. Frequent loss of heterozygosity (LOH) on chromosome 10q was reported in prostate cancer, and a candidate tumor suppressor gene, PTEN, was isolated on chromosome band 10q23.3. To investigate the genetic alterations of PTEN, we examined 45 primary prostate cancer specimens. LOH at the PTEN locus was observed in two (11.1%) of 18 tumors. However, no mutations were observed in any of the primary prostate cancers. These data suggest that mutation of the PTEN gene does not play a major role in prostate carcinogenesis of Japanese patients. Received: February 6, 1998 / Accepted: July, 3, 1998