Turner综合征的临床与实验检查研究

目的探讨Turner综合征(TS)的染色体核型异常与躯体发育异常、卵巢发育不全、性激素激素异常以及矮小和骨龄落后的关系.方法对11例TS患儿进行染色体、性激素和促性腺激素、骨龄和子宫、卵巢B超影像学检查及身高评价.结果染色体核型各异,患儿矮小和各种躯体畸形.B超检查患儿或无子宫和/或卵巢声像,或其发育落后(P＜0.01或P＜0.05).血E2降低,血促性腺激素升高(P＜0.01).骨龄落后2.4±1.5岁,身高的标准差积分为-3.9±1.2.结论TS的染色体核型与患儿临床表现有关.矮小和骨龄(BA)落后可能与SHOX基因缺失、雌激素缺乏、生长激素缺乏及甲状腺功能低下等有关.X染色体异常致患儿卵巢发育不全,并使体内性激素水平异常.     

Turner综合征的临床与实验检查研究

目的探讨Turner综合征(TS)的染色体核型与性发育异常、卵巢发育不全的关系.方法48例TS患者行染色体检查,32例行子宫、卵巢B超影像学检查,20例行性激素和促性腺激素测定.结果染色体核型分四组:第1组45,X,33例;第2组嵌合型,5例;第3组X染色体结构畸变,8例;第四组带有Y染色体,2例.13例有不同程度的性发育,19例无性发育.20例的雌二醇(E2)、睾酮(T)及泌乳素(PRL)浓度明显低于正常人,促卵泡生成素(FSH)和促黄体生成素(LH)明显高于正常女性.结论Turner综合征患者染色体核型与临床表现有关.X染色体异常致患者卵巢发育不全,并使体内性激素水平异常.     

463例Turner综合征的临床资料与染色体核型分析

目的探讨和分析Turner综合征（Turnersyndrome，TS）的临床表现与不同染色体核型的关系。方法对463例可疑的Turner综合征患儿进行染色体核型分析，记录部分病人的主要临床表现，并根据需要对部分病人进行性激素、生长激素、骨龄和盆腔超声的检查。结果染色体核型为45，x的179例（38．66％）；X染色体无结构异常的嵌合型56例（12．10％）；X染色体结构异常的68例（14．68％）；X染色体数目和结构均异常160例（34．56％）。本文资料中表现为身材矮小的占81．07％；骨龄落后占59．44％；卵巢未被探及占17．10％；卵巢发育不良占72．36％；子宫幼稚型占48．54％；始基子宫占38．83％。促卵泡刺激素（FSH）和促黄体生成素（LH）升高、雌二醇（E，）降低的占95．58％。生长激素筛查试验（运动后）〈10¨g／L的占68．50％。结论Turner综合征的染色体核型呈多样性，不同的核型临床表现存在一定的差异。对Turner患儿进行性激素、生长激素、骨龄、卵巢和子宫状况等检查可全面了解病情和指导临床治疗。     

大连地区78例Turner综合征的临床特征与染色体核型分析

目的探讨Turner综合征（TS）不同核型的遗传学特征、临床特点及其所占比例。方法成人外周血染色体核型分析,高危孕妇羊水染色体核型分析。结果成人外周血检测发现TS 75例,羊水检测发现TS 3例。78例患者中,45,XO 32例（41%）,45,XO/46,XX嵌合型10例（12.8%）,45,XO/46,XX/47,XXX嵌合型2例（2.6%）,45,XO/47,XXX嵌合型4例（5.1%）,46,X,i（X）4例（5.1%）,45,XO/46,X,i（X）嵌合型9例（11.5%）,46,X,del（Xp-）7例（9.0%）,46,X,del（Xq-）7例（9.0%）,45,XO/46,X,del（Xp11）嵌合型2例（2.6%）,45,XO/46,X,del（Xq21）嵌合型1例（1.3%）。结论 TS核型主要包括X单体型,X单体嵌合型和结构畸变型及其嵌合型三种,45,XO的X单体型为本综合症的主要类型;不同核型患者临床表现可存在差异;对有相关临床表现的女孩争取做到早诊断,早治疗;对部分具有一定生育能力的TS患者做好产前诊断,做到优生优育。     

51例Turner综合征患者染色体核型分析及临床特征

目的探讨Turner综合征不同核型的遗传学特征、临床特点及其所占比例。方法无菌取患者外周血,淋巴细胞常规培养制作染色体标本,胰酶法G显带,显微镜下进行染色体核型分析。结果 51例Turner综合征患者的染色体核型为:45,XO 19例(37.56%),45,XO/46,XX 9例(17.65%),46,Xi(Xq)8例(15.69%),45,XO/46,Xi(Xq)5例(9.8%),47,XXX 3例(5.88%),45,XO/46,X+mar 2例(3.92%),45,XO/46,XY 2例(3.92%),45,XO/45,i(Xq)2例(3.92%),46,X,del(X)(qter→q11:)1例(1.96%)。结论 Turner综合征患者的染色体有数目异常和结构畸变等多种核型,均可不同程度导致女性闭经、性腺发育异常及智力低下等症状,应提倡优生优育,做好产前诊断。     

Turner综合征自发性青春发育分析

目的探讨先天性卵巢发育不全综合征（Turnersyndrome,TS）患儿自发的青春发育与染色体核型及性激素水平之间的关系。方法30例Turner综合征患儿进行染色体检查,评估第二性征及性腺发育情况,检测性激素水平。结果染色体核型分4组,第1组45,XO,10例;第2组嵌合型,9例;第3组x染色体结构畸变,10例;第4组伴有Y染色体,1例。30例患儿随访至15周岁,其中10例出现不同程度的自发性青春发育,20例呈无性发育,4组患儿中以嵌合型TS出现自发青春发育几率最大。有青春发育患儿的性激素水平与无性发育患儿的性激素水平有显著差异。结论Turner综合征患儿自发性青春发育与染色体核型及性激素水平有密切相关性。     

原发闭经患者的染色体核型分析

目的 :分析原发闭经患者染色体核型 ,探讨性染色体异常对性腺发育及表型的影响。方法 :82例原发闭经每例行外周血培养 ,细胞收获 ,制片及G显带 ,并行染色体核型分析。结果 :原发闭经患者发现性染色体异常 32例 ,异常检出率为40 .2 % (33/ 82 )。性染色体异常大体上分 3大类 :含Y染色体 (15例 ) ;X染色体数目异常 (14例 ) ;X染色体结构异常 (4例 )。嵌合体均以 45 ,X系为主 ,共有 8例。结论 :两条完整的染色体是女性性腺发育及正常卵巢功能所必须 :Xp2 1缺失可引起身材矮小 ;性染色体异常是原发闭经的主要原因之一 ,原发闭经患者常规细胞遗传学检查是必要的     

广州地区176例闭经患者的细胞遗传学分析

目的探讨细胞遗传水平上原发性闭经和继发性闭经患者的发病机理。方法 156例原发性闭经患者,20例继发性闭经患者的外周血进行培养、制片、烘烤、胰酶消化和染色。每例标本观察20个核型,分析3～5个核型。如果遇到嵌合体,观察100例。结果在176例患者中,检测出48例染色体核型异常患者,异常核型率为27.27%,主要为X染色体数目异常和45,XO嵌合体,包括14例45,XO,19例45,XO嵌合体,5例X染色体结构异常,6例46,XY。156例原发性闭经患者中检测出46例异常核型,而在20例继发性闭经患者中检测出2例异常核型。结论染色体异常是引起原发性闭经和继发性闭经的重要原因,对闭经病人进行染色体检测对确定其病因和治疗是必要的。     

染色体核型异常男性不育患者Y染色体微缺失分析

目的探讨染色体核型异常与Y染色体微缺失之间的关系。方法578例男性不育患者均来自2007年6月至2008年5月吉林省生殖医学研究所临床门诊。所有患者临床表现均为无精子症或严重少精子症。外周血淋巴细胞培养常规染色体标本制备,进行染色体核型分析。应用多重聚合酶链反应技术,采用无精子因子区9个序列标签位点对所有染色体异常的无精子症或严重少精子症患者进行Y染色体微缺失分析。结果578例遗传咨询患者中,检测出染色体核型异常患者62例,异常率为10.73%。其中包括无精子症或严重少精子症患者10例,占总样本1.73%。10例染色体核型异常患者检测出Y染色体微缺失2例,占20%。核型为46,XX/47,XX,＋del（Y）（q11）患者临床表现为睾丸小,无精症,Y染色体缺失位点为sY157、sY152、sY254、sY255;核型为45,X,-Y,-15,＋t（Y：15）（p？;q11）患者临床表现为特发性无精子症,缺失位点为sY143、sY254、sY255。结论涉及到Y染色体的染色体核型异常与AZF微缺失密切相关。     

三例世界首报染色体异常核型分析

目的对3例世界首报染色体异常核型进行研究探讨.方法采用外周血淋巴细胞72h培养,制备染色体.3例标本用G、C-显带法进行染色体核型分析.结果有两例染色体发生平衡易位.1例Y染色体臂内倒位.发现3种人类染色体异常核型,分别为46,XY,t(1;10)(q25;q24);46,XX,t(1;12)(q42;p13);45,X/46,X,inv(Y)(q11q12).经鉴定确定为世界首报核型.结论染色体异常是导致自然流产及性腺发育不全的重要原因.     

Cytogenetic and molecular findings in patients with Turner''s syndrome stigmata.

Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter group. The X chromosome origin of the marker chromosome was proved by FISH technique with biotin labelled pericentromeric X chromosome specific probe in four other patients. These results show that patients with a number of Turner's syndrome stigmata usually do not have a typical XO karyotype but have some structural chromosomal aberrations involving the X or Y chromosomes. Combined application of cytogenetic, molecular cytogenetic (FISH), and PCR techniques significantly improves the precision of marker chromosome identification and thus might be of practical importance for the proper management and treatment of affected patients. Peculiarities of pathological manifestations of different karyotypes bearing structural abnormalities of the X or Y chromosomes in patients with Turner's syndrome stigmata, as well as feasible genetic mechanisms of sex determination and differentiation abnormalities in these subjects, are briefly discussed.     

特纳综合征14例核型与临床分析

目的探讨Turner综合征患者由于核型的差异在临床表现上的不同。方法采用外周血淋巴细胞培养常规染色体G显带技术对14例Turner综合征进行核型分析,对比其临床表现与不同核型之间的关系。结果 Turner综合征患者临床表现多样,主要核型有单体型、嵌合型、X染色体结构异常、含Y染色体。结论 X染色体缺失或部分缺失是导致Turn-er综合征的主要原因,身材矮小、第二性征发育不良是其典型的表现,临床表现取决于核型异常的程度及异常核型和正常核型细胞系的比例。     

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines.     

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15–25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combination of polymerase chain reaction (PCR) and nested PCR followed by Southern blot analysis of three genes—the sex determining region Y (SRY), testis specific protein Y encoded (TSPY) and RNA binding motif protein (RBM) (previously designated as YRRM) and nine additional STSs spanning all seven intervals of the Y chromosome. The methodology has a high sensitivity as it detects one 46, XY cell among 10⁵ 46, XX cells. Reliability was ensured by taking several precautions to avoid false positive results. We report the results of screening 50 TS patients and the identification of cryptic Y chromosome material in 12 (24%) of them. Karyotypes were divided in four groups: 5 (23.8%) patients out of the 21 TS patients which have the 45, X karyotype (group A) also have cryptic Y sequences; none (0%) of the 7 patients who have karyotypes with anomalies on one of the X chromosomes have Y mosaicism (group B); 1 (6.3%) of the 16 patients with a mosaic karyotype have Y material (group C); and 6 (100%) out of 6 patients with a supernumerary marker chromosome (SMC) have Y chromosome sequences (group D). Nine of the 12 patients positive for cryptic Y material were recalled for a repeat study. Following new DNA extraction, molecular analysis was repeated and, in conjunction with fluorescent in situ hybridization (FISH) analysis using the Y centromeric specific probe Yc-2, confirmed the initial positive DNA findings. This study used a reliable and sensitive methodology to identify the presence of Y chromosome material in TS patients thus providing not only a better estimate of a patient's risk in developing either gonadoblastoma or another form of gonadal tumor but also the overall incidence of cryptic Y mosaicism.     

45 XO/49 XYYYY Mosaicism in a male with stigmata of Turner''s syndrome

A male subject with Turner-like stigmata and chromosomic constitution 45,XO (97.5%) and 49,XYYYY (1.1%) is reported. The findings of a low percentage line bearing Y chromosome in a patient with clinical features similar to those described for XO males, would support the hypothesis that masculinization in certain individuals with 45,XO karyotype may be due to an undetected mosaicism.     

两性染色体嵌合型异常八例

目的总结分析X,Y两性染色体嵌合异常核型与临床关系。方法回顾性总结分析了8例具有两性核型嵌合,社会性别男性患者的核型及临床表现。结果5例儿童患者都表现有尿道下裂及隐睾,其中3例儿童患者经腹部手术探查发现同时存在有睾丸、输卵管、卵巢等两性生殖器官;3例成年患者则主要表现为婚后不育、睾丸及副性征发育不全。结论具有X,Y两性染色体嵌合异常核型的个体可能存在有男女两性生殖器官,通过手术探查可明确诊断其是否为真两性畸形。对于表现性发育不明确者,特别是儿童尿道下裂、隐睾者,染色体核型分析能为下一步治疗提供非常有益的科学依据。