对不良生育史夫妇细胞遗传学分析

目的探讨染色体异常与不良生育史的关系。方法对682对不良生育史的夫妇的外周血T淋巴细胞进行细胞培养、G显带、核型分析。结果共检出异常核型36例,检出率5.28%。其中染色体平衡易位9例,占25%;罗氏易位8例,占22.2%;染色体臂间倒位4例,占11.1%;染色体多态性变异15例,占41.7%。结论染色体异常是导致不良生育史的重要原因之一,对高危人群应该行染色体检查,排除染色体畸变的可能。     

156对不孕不育夫妇的染色体核型分析

目的　探讨染色体核型异常与不孕不育的关系。方法　对有不孕不育史的 15 6对夫妇进行外周血染色体核型分析。结果　 15 6对夫妇中有 2 5例染色体核型异常 ,异常检出率 8 0 %。其中平衡易位 8例 ,占 2 6 % ;复杂易位 1例 ,占0 3% ;臂间倒位 8例 ,占 2 6 % ;Y染色体变异 6例 ,占 1 97% ;常染色体变异 2例 ,占 0 6 %。结论　不孕不育夫妇任何一方的染色体核型异常是引起不孕、流产、死胎及畸胎的重要原因。     

545例不良孕产史患者细胞遗传学分析

目的探讨不良孕产史与细胞遗传学的关系。方法对545例有自然流产、胚胎停育或生育畸形儿史的患者通过取外周血淋巴细胞培养,G显带进行染色体核型分析。结果发现545例患者中有染色体核型异常29例,异常率5.3%,其中自然流产、胚胎停育的患者核型异常26例,占异常总数的89.7%,有生育畸形儿史的患者核型异常3例,占异常总数的10.3%。染色体变异共20例,占3.7%。结论染色体异常是导致不良生育的重要原因之一,所以,对有不良孕史的患者进行染色体检查十分必要,有助于我们进行优生优育指导。     

北京西城区不良生育史患者染色体分析

目的对有不良生育史的患者进行染色体核型分析，探讨染色体异常与不良生育的关系。方法对243例不良生育史的患者进行外周血淋巴细胞培养，G显带进行核型分析。结果243例不良生育史患者中染色体异常患者6例，染色体异常率为2．47％（6／243）。其中染色体结构异常的患者3例，占染色体异常的50％（3／6）；染色体数目异常的患者2例，占染色体异常的33．33％（2／6）；性反转患者1例，占染色体异常的16．7％（1／6）；具有染色体多态性的患者17例，占不良生育史患者总数的7％（17／243）。结论染色体异常可以造成不良生育，对有不良生育史的患者进行染色体核型分析可以帮助患者查找病因，减少出生缺陷，提高出生人口素质。     

460对不育、不良孕产史夫妇细胞遗传学分析

目的探讨不良孕产史与染色体异常的关系。方法对460对夫妇有自然流产、胚胎停育、死胎、不孕不育及生育畸形儿史的患者进行外周血淋巴细胞培养,G显带染色体核型分析。结果 460对夫妇中异常核型77例,异常率16.74%,其中性染色体异常14例,占异常率18.18%,染色体结构异常28例,占异常率36.36%,染色体多态性变异35例,占异常率45.45%。结论夫妇任何一方染色体核型异常是不良孕产史的重要原因之一。     

701例不良孕产史者细胞遗传学分析

目的探讨不良孕产史与染色体异常的关系。方法采用外周血淋巴细胞染色体分析。结果701例有不良生育史患者,染色体查出异常核型35例,其中染色体数目异常1例,占异常核型的2．86％（1／35）;染色体结构异常24例,占异常核型的68．57％（24／35）,包括平衡易位8例,倒位15例,未知起源的附加物1例;染色体多态性变异10例,占异常核型的28．57％（10／35）。结论染色体异常是导致不良孕产史的重要原因之一,它不但与染色体结构异常有关,而且与染色体多态性也有关联。     

泰安地区146对不良孕产史夫妇细胞遗传学分析

目的探讨不良孕产史与细胞遗传学的关系,分析染色体异常核型以了解染色体异常在孕产中的重要性。方法 146对有不良孕产史的夫妇常规外周血淋巴细胞染色体培养和标本制备,并对染色体核型进行分析。结果 36例异常核型,异常检出率为12.33%,其中常染色体(包括数目和结构)异常10例、性染色体(包括数目和结构)异常5例、染色体多态性变异21例,分别占受检人数的3.42%、1.71%、7.19%。结论染色体异常在不良孕产史的夫妇中占据重要的地位,对不良孕产史夫妇进行染色体核型分析有利于指导生育,提高出生人口素质。     

钦州地区356对不良生育史夫妇细胞遗传学分析

目的通过研究临床上有过不良生育史夫妇的外周血染色体核型,探讨其染色体核型异常出现的类型及发生率。方法回顾性的分析2013年1月到2017年4月在本院诊断为不良生育史的夫妇356对,抽取其夫妇外周血,淋巴细胞培养,常规G显带并进行核型分析。结果在这356对有过不良生育史的夫妇中,夫妇一方染色体核型异常的有85对,异常率为23.9%。其中,染色体多态性的有57对,占异常核型的67.1%;染色体结构异常的有25对,占异常核型的29.4%;性染色体异常的有3对,占异常核型的3.5%。结论夫妇染色体异常是导致不良生育史的主要原因。适龄夫妇在备孕前应做好遗传学咨询,避免生育染色体病患儿,达到优生优育。     

489例不良孕产史患者细胞遗传学分析

目的探讨染色体异常对生育的影响.方法对489例有自然流产、胎停育或生育畸形儿史的患者进行外周血淋巴细胞培养,G显带染色体核型分析.结果 489例患者中染色体核型异常24例, 异常率达4.9%, 其中有自然流产、胎停育史的患者核型异常占20例,有生育畸形儿史的患者核型异常占4例.染色体变异共21例,占4.3%.结论染色体异常是导致不良生育的重要影响因素, 应重视遗传学检查,进行优生优育指导.     

陕西地区563对不良孕产史夫妇细胞遗传学分析

目的探讨不良孕产史与外周血染色体核型之间的关系。方法采集2012年1月至2018年12月来我院就诊的563对不良孕产史患者的外周血,常规技术方法培养淋巴细胞,制备染色体,G显带,必要时增加C显带和N显带,在显微镜下进行染色体核型分析。结果 563对不良孕产史夫妇中共发现染色体异常的核型78例,异常染色体核型检出率为6.67%。其中罗氏易位16例,占异常核型的20.51%;平衡易位9例,占异常核型的11.54%;倒位3例,占异常核型的3.85%;染色体多态为50例,占异常核型的60.10%。结论染色体异常是造成患者发生不良孕产史的主要原因之一,因此对于不良孕产史的夫妇有必要常规开展细胞遗传学检查并遗传咨询。     

洛阳地区2065例遗传咨询者细胞遗传学研究

目的 探讨染色体核型分析在优生遗传咨询中的意义。方法 对洛阳地区2065例遗传咨询者，取外周血淋巴细胞培养，常规割片G显带，进行染色体核型分析。结果 染色体核型正常1851例，发现异常核型214例，异常检出率为10.36％。异常核型涉及到三体型、单体型、罗伯逊易位、相互易位、不平衡重排等。异常核型中，不良孕产史为89例，智力低下91例，原发闭经14例，性征发育异常及其他为30例。结论 染色体核型分析对不良孕产史、智力低下、原发闭经、性征发育不良等疾病的诊断具有重要意义。对于明确染色体结构及数目异常者，应行产前诊断，避免患儿出生。     

染色体异常与疾病之间关系的临床分析

目的研究染色体异常与临床疾病发生之间的关系。方法采用人外周血淋巴细胞培养，常规G显带技术进行核型分析。结果298例检查者中，染色体异常59例，染色体检出率18．8％。染色体异常疾病主要发生于有不良妊娠史、男性少弱精症、男女性发育异常及智力低下。在59例染色体异常中，数目异常占20．34％，嵌舍体占5．08％，结构异常占20．34％，染色体多态性占49．15％。有3例社会性别为女性，染色体核型为男性。结论染色体异常会导致临床疾病的发生，遗传咨询和产前诊断对染色体异常疾病有预防作用。     

Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes.

Cytogenetic studies were performed in 112 untreated cases of myelodysplastic syndrome (MDS) between 1985 and 1990. Among 112 patients who were examined at the time of diagnosis, 54 had an abnormal karyotype (48%). The highest frequency of chromosome abnormalities was observed in refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-t) and the lowest in refractory anemia with ring sideroblasts (RARS) and chronic myelomonocytic leukemia (CMMoL). Numerical changes were observed in 19 cases and structural in 17; chromosome 8 was most frequently gained (11 cases), whereas chromosome 7 was most frequently lost (6 cases), 5q- in 14 (4 as a sole anomaly); involvement of 7q22 was seen in 3 cases, 11p in 2 patients, 11q in 3 (one patient as a sole anomaly), 12p in 4 (2 patients as a sole anomaly), i(17q) in 4 (3 patients as a sole anomaly), and complex chromosomal defects in 10 patients. If one takes into account the prognosis value, a complex karyotype and the presence of ring chromosomes were correlated with the worst prognosis, followed by -7/7q-; an intermediate prognosis corresponds to i(17q), 12p as a sole anomaly, +8 (as a sole anomaly or plus other anomalies), and involvement of 12p. Patients with a 5q- as a sole anomaly or with a normal karyotype, had the best prognosis.     

Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men

Spermatozoa from 32 infertile patients and 13 controls with normal semen parameters were analysed using dual and triple colour fluorescence in-situ hybridization (FISH) techniques, in order to investigate the rates of aneuploidy for chromosomes 13, 18, 21, X and Y. The patients were divided into three groups according to their karyotypes or the karyotypes of their offspring: 15 were infertile men with abnormal semen parameters and normal karyotypes (group 1), 13 were infertile men with abnormal karyotypes and normal or abnormal semen (group 2) and four were infertile men with abnormal semen and normal karyotypes but whose wives conceived a child (or a fetus) with a numerical chromosomal abnormality through an intracytoplasmic sperm injection cycle (group 3). Patients with abnormal semen parameters showed a significantly higher aneuploidy rate for the investigated chromosomes in their spermatozoa compared to controls (P < 0.005). Our data suggest the presence of a correlation between poor semen parameters and an increase in aneuploidy rate of chromosomes 13, 18, 21, X and Y in spermatozoa (r = -0.81071, P < 0.002); therefore the risk of a chromosomal aneuploidy in spermatozoa seems to be inversely correlated to sperm concentration and total progressive motility. Patients with abnormal karyotypes showed a higher incidence of diploidy and chromosomal aneuploidies compared to controls (P < 0.002). This strongly suggests the presence of an interchromosomal effect of the cytogenetic rearrangement. Men who fathered a child with an abnormal karyotype through intracytoplasmic sperm injection did not present a higher aneuploidy rate for the investigated chromosomes in spermatozoa compared to patients with infertility due to a similar male factor but showed higher incidence of chromosomal aneuploidy compared to normal controls.     

兰州地区不良妊娠与大Y染色体的细胞遗传学探讨

目的分析不良妊娠与大Y染色体核型之间的关系。方法外周血淋巴细胞G显带核型分析,统计生育异常男性染色体异常核型者,设立同期体查核型为46,XY的正常男性为对照组。结果5152例受检者共检出异常核型876例,其中大Y染色体246例,检出率为4.75%（246/5152）、占异常核型的28.08%（246/876）。临床主要表现为男性不育、女性习惯性流产、死胎、畸形儿等。结论大Y染色体核型具有一定的遗传效应,对精子的生成和配偶的不同类型的不良妊娠有一定的临床关系。     

Histological examination of first trimester spontaneous abortions: the impact of materno-embryonic interface features

Cytogenetic findings and placental histological features of 319 consecutive first trimester spontaneous abortions were retrospectively investigated. Correlation of cell culture results and microscopic examination based on conventional villous histological criteria showed an overall sensitivity of 45.1% for histology in detecting chromosomal anomalies. Discrepant cases, i.e. normal histology with unequivocal chromosomal anomaly and abnormal histological features suggesting a chromosomal anomaly according to the classical criteria but with a normal karyotype, were reviewed by two independent observers using extended histological criteria including features of the materno-embryonic interface. There was a significant (P < 0.001) increase of the sensitivity of histology to 66.4% for both observers after the second histological examination. Macerated specimens or incomplete specimens made of chorion laeve or maternal decidua only are difficult to evaluate, and represent the main cause of discrepancy between cytogenetics and morphology. The results of this study indicate that the sensitivity and specificity of microscopic examination in cases of early spontaneous abortion may be improved by adding features of the materno-embryonic interface to classical villous histological criteria.     

延安地区大Y染色体与临床疾病关系的细胞遗传学分析

目的探讨大Y染色体与临床疾病之间的关系。方法按常规方法制备外周血淋巴细胞染色体标本,G显带后,镜下核型分析。结果392例受检者共检出异常核型224例,其中大Y染色体64例,大Y检出率为16.33%(64/392)、占异常核型的28.57%(64/224)。临床主要表现为男性不育、女性习惯性流产、死胎、畸形儿、智力低下等。结论大Y染色体具有一定的临床效应,与临床疾病有一定的关系。     

Chromosomal abnormalities associated with congenital contractures (arthrogryposis)

In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the thirteen had a family history of chromosomal abnormalities without congenital contractures, therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the eleven (45%) had chromosome mosaicism, three of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and one had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. We recommend first lymphocyte; and if those are normal, then fibroblast studies be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.     

Correlation between rare chromosomal abnormalities and prenatal ultrasound findings

Our objective was to examine ultrasound findings with outcomes in cases of rare chromosomal abnormalities diagnosed during pregnancy. Results of cytogenetic studies obtained from amniocenteses and chorionic villus samplings (CVS) from 1994–2000 were reviewed. Only those examples of rare chromosomal abnormalities with little information on the associated outcome were included. Cases of autosomal trisomy (13, 18, and 21), sex chromosome aneuploidy, and reciprocal or Robertsonian translocations were excluded. Ultrasound findings and outcomes were reviewed. In all, 8,642 procedures of amniocenteses and 557 of CVS were performed; 21 cases met the inclusion criteria. Parental karyotypes were obtained for 19 couples and the karyotypic abnormalities were de novo in 13. Abnormal ultrasound findings were present in 14 pregnancies, with the following outcomes: seven underwent dilatation and evacuation (D&E), with abnormal findings in two (although examination was limited by fragmentation); one medical termination with micrognathia and low‐set ears; one fetal demise; one neonatal demise; three surviving neonates with abnormalities (one each with congenital kyphosis, hydronephrosis, and hypotonia), and one newborn was normal. There were seven patients without abnormal ultrasound findings with the following outcomes: three underwent D&E, with abnormal findings in two, one child with a colobomatous optic nerve, and two apparently normal infants. Follow‐up was not available in one patient. We conclude that when rare karyotypes and ultrasound abnormalities are present, poor outcomes are likely. Even with normal ultrasound findings, abnormalities may be present. These data may assist in counseling patients when testing reveals such chromosomal abnormalities. © 2002 Wiley‐Liss, Inc.     

Correlation between rare chromosomal abnormalities and prenatal ultrasound findings.

Our objective was to examine ultrasound findings with outcomes in cases of rare chromosomal abnormalities diagnosed during pregnancy. Results of cytogenetic studies obtained from amniocenteses and chorionic villus samplings (CVS) from 1994-2000 were reviewed. Only those examples of rare chromosomal abnormalities with little information on the associated outcome were included. Cases of autosomal trisomy (13, 18, and 21), sex chromosome aneuploidy, and reciprocal or Robertsonian translocations were excluded. Ultrasound findings and outcomes were reviewed. In all, 8,642 procedures of amniocenteses and 557 of CVS were performed; 21 cases met the inclusion criteria. Parental karyotypes were obtained for 19 couples and the karyotypic abnormalities were de novo in 13. Abnormal ultrasound findings were present in 14 pregnancies, with the following outcomes: seven underwent dilatation and evacuation (D&E), with abnormal findings in two (although examination was limited by fragmentation); one medical termination with micrognathia and low-set ears; one fetal demise; one neonatal demise; three surviving neonates with abnormalities (one each with congenital kyphosis, hydronephrosis, and hypotonia), and one newborn was normal. There were seven patients without abnormal ultrasound findings with the following outcomes: three underwent D&E, with abnormal findings in two, one child with a colobomatous optic nerve, and two apparently normal infants. Follow-up was not available in one patient. We conclude that when rare karyotypes and ultrasound abnormalities are present, poor outcomes are likely. Even with normal ultrasound findings, abnormalities may be present. These data may assist in counseling patients when testing reveals such chromosomal abnormalities.