男性染色体异常对生育的影响

因男性染色体异常而引起的不育或女方反复流产是影响生育的一个重要因素。本文对 5 2 0例不育 ,包括其妻自然流产 2次以上男性病人的染色体进行了分析。1　对象与方法1995年 12月～ 2 0 0 0年 6月门诊就诊的 5 2 0例不育 ,包括其妻反复流产 2次以上男性病人 ,平均年龄 31岁。精液常规检查、外周血淋巴细胞染色体标本制备和分析 ,为本室常规。2　结果与讨论染色体异常检出率为 7.1% (37/5 2 0 )。其中性染色体异常率 3.4 % (18/5 2 0 )。常染色体异常率3.7% (19/5 2 0 )。 37例核型异常者中 2 2例精液异常 ,其中无精子症 19例 ,核型分别为 4 …     

染色体变异对男性生育能力影响的分析

目的探讨染色体的异常对男性生育能力的影响。方法对男性不育就诊的4183例男性患者进行G显带核型分析。结果1097例染色体异常核型中,常染色体数目异常占1．73%(19/1097)；常染色体结构异常13．49% (148/1097)；性染色体数目异常占30．08%(330/1097)；性染色体结构异常例占53．24%(584/1097)；嵌合体占1．46%(16/1097)。结论染色体变异对男性生育有重要影响。对于睾丸发育不良、畸形精子多、少精子、无精子以及其妻有反复流产史、死胎史和畸胎史的男性患者应进行染色体检查,以排除染色体畸变的可能。     

2203例不育男性染色体分析

我们通过总结自1988年6月至2005年2月间通过19017不育男子和婚检的咨询诊疗，对其中2203例男性作外周血染色体检查，发现染色体异常339例（13．38％），其中明显异常292例占13．25％，微小异常36例占1．63％。     

少弱精神患者染色体与内分泌异常70例分析

少弱精是男性不育的主要原因之一 ,而不育男性中染色体异常的发生率显著高于正常人群 ,有报道染色体异常占男性不育的 1 8%～2 0 % [1] 。作者对少弱精与染色体异常及内分泌之间的关系进行了分析。一、资料与方法自 1 999年 3～ 8月在我院不育门诊及生殖医学中心就诊的男性不育患者中 ,经精液常规检查 (按 WHO1 990年诊断标准 )精子密度 <2 0 .0× 1 0 6 / ml、a级运动 <2 5 %或 a b级运动<5 0 %为少弱精症患者共 70例 ,年龄 2 6～ 40岁 ,进行外周血染色体核型检查 ,其中 61例作了卵泡刺激素 (FSH)、黄体生成素 (L H)、睾酮(T)三项测定…     

206例男性不育症的细胞遗传学研究

自从1859年 Jacob首次发现先天性睾丸发育不全的不育病人与性染色体异常有关以来,许多细胞遗传学研究的结果都表明男性不育与染色体异常是密切相关的为了分析造成男性不育的染色体异常类型和频率,本文对随机取样的260例男性不育症进行了染色体检查,结果如下     

少弱精患者染色体与内分泌异常70例分析

少弱精是男性不育的主要原因之一,而不育男性中染色体异常的发生率显著高于正常人群,有报道染色体异常占男性不育的18%～20%[1].作者对少弱精与染色体异常及内分泌之间的关系进行了分析. 一、资料与方法 自1999年3～8月在我院不育门诊及生殖医学中心就诊的男性不育患者中,经精液常规检查(按WHO1990年诊断标准)精子密度<20.0×106/ml、a级运动<25%或a+b级运动<50%为少弱精症患者共70例,年龄26～40岁,进行外周血染色体核型检查,其中61例作了卵泡刺激素(FSH)、黄体生成素(LH)、睾酮(T)三项测定,本实验室正常参考值分别为1～8 IU/L、2～12 IU/L、6.94～46.8 nmol/L.另9例因已在外院作了内分泌检查,拒绝再次检查,未将其内分泌结果纳入分析.     

无精子症和严重少精子症患者Y染色体微缺失、染色体核型和性激素结果分析

目的:研究男性无精子和严重少精子症患者Y染色体微缺失、染色体核型和性激素的相关性。方法:收集无精子症患者63例、严重少精子症患者49例和精液参数正常生育男性60例,抽取外周血分别检测Y染色体微缺失、染色体核型和性激素水平。结果:63例无精子症患者中,7例Y染色体微缺失,微缺失的发生率为11.11%(7/63);49例严重少精子症患者中,4例Y染色体微缺失,微缺失的发生率为8.16%(4/49),与正常精液组(未发现Y染色体微缺失)比较均有统计学差异(P<0.05)。无精子症患者中,染色体核型异常率为9.52%(6/63),而正常生育男性精液组和严重少精子症患者中均未发现异常染色体核型。与正常生育男性精液组[FSH(3.88±2.21)IU/L;LH(4.63±1.51)IU/L]比较,无精子症[FSH(20.41±19.34)IU/L;LH(11.44±9.48)IU/L]和严重少精子症[FSH(8.88±7.04)IU/L;LH(6.78±3.85)IU/L]不育患者FSH和LH水平显著升高(P<0.05)。结论:无精子症和严重少精子症不育患者有必要进行遗传学和性激素检查,便于早期诊断和治疗。     

男性儿童常见外生殖器畸形的异常染色体核型特点

目的探讨男性儿童常见外生殖器畸形的异常染色体核型特点。方法回顾性分析2012年1月至2017年12月浙江大学医学院附属儿童医院收治的2 408例患儿的临床资料。平均年龄(38±7)个月。其中尿道下裂1 115例, 隐睾189例, 小阴茎304例, 隐匿性阴茎681例, 性发育异常119例。所有患儿均行外周血染色体550带检测, 并分析染色体的核型。结果本组2 408例, 共检测出异常染色体核型131例, 检出率5.4%, 其中染色体数量异常46例, 结构异常85例;性染色体异常64例, 常染色体异常67例。最常见的异常染色体核型为46, XY, inv(9)(p12q13), 共28例, 占比21.4%;其次为47, XXY, 共16例, 占比12.2%。性发育异常、尿道下裂、隐睾、小阴茎、隐匿性阴茎患儿染色体异常检出率分别为12.6%(15例)、5.5%(61例)、5.3%(10例)、4.9%(15例)、4.4%(30例)。结论男性常见外生殖器畸形患儿中染色体异常不罕见。染色体结构异常较数量异常更常见, 性染色体异常与常染色体异常占比相当。     

290例精液异常不育患者的染色体核型分析

目的 研究男性少精子症及无精子症患者与染色体核型异常的关系.方法 对290例经精液常规检测,临床诊断为少精子症或无精子症的不育患者,抽取外周血进行淋巴细胞培养、G显带、核型分析.结果290例少精子症及无精子症患者的细胞遗传学分析中检出异常核型78例,其中性染色体异常68例,占全部被检者23.45％,占异常核型87.18％;常染色体异常10例占全部被检者21.38％,占异常核型12.82％.结论 染色体异常是造成男性少精子症及无精子症的重要因素,对临床上少精子及无精子患者进行染色体检查非常必要.     

367例不育男性的染色体分析

为了研究染色体因素对男性不育症的影响 ,为辅助生殖技术提供指导 ,我们应用染色体 G显带、C显带技术 ,分析了 3 67例男性不育症患者的染色体。结果发现 79例染色体异常 ,异常率为 2 1 .5 %。染色体异常是男性不育症的重要原因 ,染色体检查应列为人工授精和显微授精等辅助生殖技术的常规检查     

132例男性不育患者遗传学病因分析

目的：对男性不育患者进行遗传学病因分析，并探讨其遗传效应。方法：采取132例男性不育患者外周血进行染色体核型分析。结果：132例男性不育患者中，染色体异常24例，染色体变异22例。其中大Y20例，47，XXY18例，45．XY，t(13；14)3例，小Y和46，XY，inv(9)各2例，46，XY，t(9；22)1例。结论：染色体异常是男性不育的重要原因，并建议男性不育患者进行基因诊断，以便确诊是否属于遗传病，为生育提供指导，避免盲目治疗。     

Is there a possible correlation between chromosomal variants and spermatogenesis?

AIM: Heterochromatin polymorphism is considered a variant of a normal karyotype but is more frequent in infertile men. The aim of this study was to evaluate the correlation between heterochromatic variants and male infertility and to discuss the possible mechanisms of how heterochromatic polymorphism might affect spermatogenesis. METHODS: Cytogenetic analysis was undertaken in 210 infertile males who had been taken into assisted reproductive techniques and in 183 men with proven fertility. Additionally, C-banding was performed in men with heterochromatin polymorphism. Sperm fluorescence in situ hybridization (FISH) was applied in 54 men with normal karyotype presenting either normal or abnormal sperm parameters as well as in 8 men with heterochromatin polymorphism. The outcomes of assisted reproductive techniques were compared between infertile men with normal karyotype and men with heterochromatin polymorphism. RESULTS: The incidence of heterochromatin polymorphism was higher in infertile men. The most frequent chromosome involved in heterochromatin polymorphism was chromosome 9. Sperm FISH analysis revealed an increased rate of aneuploidy in men with heterochromatin polymorphism. Laboratory and clinical outcomes in assisted reproductive techniques were compromised in men with heterochromatin polymorphism. CONCLUSIONS: An increased rate of heterochromatin polymorphism in infertile males seems to be more than an incidental finding, and must not be considered as a normal variant. Polymorphic heterochromatin may have deleterious effects on the genetic constitution of spermatozoa. More attention must be directed to infertile men with heterochromatin polymorphism.     

Incidence of chromosome 8,10,X and Y aneuploidies in sperm nucleus of infertile men detected by FISH

We studied the frequency of aneuploidy in sperm nuclei of six infertile men with abnormal semen profile and normal karyotype, using fluorescence in situ hybridization (FISH) with DNA probes for chromosomes 8, 10, X and Y. The control group consisted of four healthy fertile men with normal karyotype and semen profiles. The purpose of this study was to determine whether there are differences between infertile male donors and control donors for: (1) the incidence of sex chromosome aneuploidy, and (2) the number of disomies for chromosomes 8, and 10 cosegregating with chromosomes X and Y. FISH analysis showed no significant differences of sex ratios of the sperm nuclei in and between infertile and control groups. The most significant abnormalities in the infertile group were clusters of sperm nuclei bearing XY and XYY. In addition, the incidence of disomic sperm nuclei for chromosomes 8 and 10 consegregating with sex chromosomes was not significantly different between the patient and control groups, nor within them. However, the total frequency of aneuploid sperm nuclei was significantly different between the infertile group and the control group. We observed a significant excess of sperm nuclei bearing chromosome 10 along with disomy for chromosome Y (10YY). In conclusion, our results from FISH analysis demonstrate a significantly increased frequency of aneuploidy for the sex chromosomes in sperm nuclei from infertile men. Therefore it may be concluded that infertility is a risk factor for sex chromosome aneuploidy in sperm nuclei.     

Chromosomal abnormalities and y chromosome microdeletions in infertile men with varicocele and idiopathic infertility of South Indian origin

Various factors cause spermatogenesis arrest in men and, in a large number of cases, the underlying reason still remains unknown. Little attention is paid to determining the genetic defects of varicocele-related infertility. The objective of our present study was to investigate the chromosomal abnormalities and Y chromosome microdeletions in infertile men of South Indian origin with varicocele and idiopathic infertility. Metaphase chromosomes of 251 infertile men with varicocele and unexplained infertility were analyzed using Giemsa-Trypsin-Giemsa (GTG) banding and fluorescence in situ hybridization (FISH). The microdeletions in 6 genes and 18 sequence-tagged-sites (STS) in the Yq region were screened using polymerase chain reaction (PCR) techniques. Out of 251 infertile men, 57 (22.7%) men were with varicocele, of which 8.77% were azoospermic, 26.31% were severely oligozoospermic, 21.05% were mildly oligozoospermic, and 43.85% were oligoasthenoteratozoospermic (OAT), and 194 (77.29%), with idiopathic infertility, of which 51% were azoospermic, 13.40% were severely oligozoospermic, 19.07% were mildly oligozoospermic, and 16.4% were with OAT. Genetic defects were observed in 38 (15.13%) infertile individuals, including 14 (24.56%) men with varicocele and 24 (12.37%) men with idiopathic infertility. The frequencies of chromosomal defects in varicocele and idiopathic infertility were 19.3% and 8.76%, respectively, whereas Y chromosome microdeletions were 5.26% and 3.60%, respectively. Overall rate of incidence of chromosomal anomalies and microdeletions in 251 infertile men were 11.5% and 3.98%, respectively, indicating a very significant higher association of genetic defects with varicocele than idiopathic male infertility. Our data also demonstrate that, among infertile men with varicocele, severely oligozoospermic and OAT men with varicocele have higher incidences of genetic defects than mildly oligozoospermic and azoospermic men.     

Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia

Aim： To investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group. Methods： From June 2003 to November 2005, 50 azoospermic and 80 oligozoospermic men were enrolled in the study. A detailed history was taken for each man, followed by general and genital examinations. Y chromosome microdeletions were detected by multiplex polymerase chain reaction （PCR） using 11 gene-specific primers that covered all three regions of the azoospermic factor （AZFa, AZFb and AZFc）. Fifty men with normal semen analysis were also studied. Karyotyping was done with the standard G- and Q-banding. Serum concentrations of follicle stimulating hormone （FSH）, luteinizing hormone （LH）, prolactin （PRL） and testosterone were measured by electrochemiluminescence immunoassays （ECLIA）. Results： Azoospermia and oligozoospermia could be explained by previous orchitis in 22.3%, former bilateral cryptorchidism in 19.2%, abnormal karyotypes in 4.6% and Y chromosome microdeletions in 3.8% of the subjects. The most frequent deletions were in the AZFc region （50%）, followed by AZFb （33%） and AZFbc （17%）. No significant difference was detected in hormonal profiles of infertile men, with or without microdeletions. Conclusion： The frequencies of Y chromosome microdeletions and cytogenetic abnormalities in oligozoospermic and azoospermic Thai men are comparable with similarly infertile men from other Asian and Western countries.     

Studies on microdeletion of genes relevant to spermatoge nesis in infertile men

Objective: To study the relationship between relevant gene micro-deletion and spermatogenesis in infertile men. Methods: To analyze the relevant genes of the Y-chromosome and the karyotype of peripheral blood chromosome in 149 azoospermic/sever oligo-spermic infertile men and 100 normal controls by multipolymerase chain reaction (PCR). Results: Microdeletions in different gene segments of the Y-chromosome were present in 11 cases of the infertile group (7.38 %). No microdeletion in the corresponding areas was found in the controls. The incidence of abnormal karyotype in the infertile group was 14.09 % and in the controls, 2 %. In the 11 infertiles with microdeletion in different gene segments, only one had abnormal karyotype, indicating no relativity between the two. Conclusion: Microdeletion of Y-chromosome may be an important cause of male infertility.     

Identification of novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using Interphase Chromosome Profiling (ICP)

Conventional cytogenetics has always been a favourite to detect chromosomal aberrations. Carriers of chromosomal translocation are often phenotypically normal but are infertile. Couples are often advised to go for karyotyping, but culture failure or improper metaphase spread with poor banding often makes the analysis difficult. We report here a novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using an advanced molecular cytogenetic technique of Interphase Chromosome Profiling (ICP).     

Screening for AZF deletion in a large series of severely impaired spermatogenesis patients

Recent investigations have pointed to a high prevalence of Y chromosome submicroscopic deletions in men with severely impaired spermatogenesis. We report on the incidence in 128 infertile men, in whom karyotype, sperm count, and hormonal parameters were evaluated. Patients with abnormal karyotype (other than an abnormal Y chromosome) or sperm concentration of more than 2 million/mL were excluded. Genomic DNA was extracted from the peripheral leukocytes of 57 men with azoospermia and 71 with severe oligospermia. Molecular analysis was performed by 3 multiplex polymerase chain reactions using a set of 9 sequence tagged sites (STSs) from 3 different regions of the Y chromosome: AZFa, AZFb, and AZFc. In 7% of the studied patients Yq microdeletions were detected, with a high prevalence in men with azoospermia (14%). No deletions were detected in the AZFa region. Deletions were present in AZFb, AZFc, or both regions. The deletion observed in 1 patient that did not overlap with the DAZ region demonstrates that genes other than DAZ may also be involved in the pathogenesis of some subsets of male infertility. Furthermore, common Yq deletions present different testicular pictures, suggesting that some unknown factors may be disturbing spermatogenesis. Because men with severe infertility suffer a high risk of Y chromosome deletion, screening for these men is recommended prior to treatment with assisted reproduction.