原发性闭经患者染色体核型分析及SRY基因检测

目的:分析原发性闭经患者染色体异常核型及Y染色体上的性别决定区(SRY)基因,并对原发性闭经的原因进行探讨.方法:采用染色体G显带及聚合酶链反应对71例原发性闭经患者进行染色体核型分析及SRY基因检测.结果:71例原发性闭经患者中检出核型异常者23例;6例SRY阳性.其中45X 7例、45X/46XX1例、45X/46Xi(Xq)3例、46Xi(Xq)6例、46XX/46XY 2例、46XY 4例.1例45X/46Xi(Xq)SRY基因为阳性,2例46XX/46XY均检测出SRY基因,4例46XY中3例SRY阳性,其余患者SRY基因均为阴性.结论:染色体核型异常与SRY基因异常均可导致原发性闭经.     

原发性闭经62例的细胞遗传学研究

<正> 原发性闭经除内分泌失调及生殖器官疾患外,因染色体异常引起者约占病因的30—50%。自1980年10月至1983年11月,我们共对62例原发性闭经患者作了全身性及妇科检查,并按我室常规进行了外周血淋巴细胞培养及G 带染色体检查,其中29例曾予报道,现进一步分析讨论如下。62例中有染色体异常者27例,占43.5%,其中8例为45X;4例为46X,i(Xq);7例为嵌合体(45,X/46,X,i(Xq)2例,45,X/46,XX、45,X/46,XY、45,X/46,X,i(Xq)/46,XX、45,X/46,X,X_(?)/46,XX 及45,X/46,X,X_(?)/     

62例闭经病人的细胞遗传学分析

本文将1985年7月至1991年4月到我室进行染色体检查的62例闭经患者的核型及病因进行了细胞遗传学分析。发现了15例异常核型(占受检人数的24.2％),包括:45,XO(2例);45,XO/46,XX(3例);45,XO/46,XX/47,XXX(1例);45,XO/46,X,i(Xq)和46,X,i(Xq)(各1例);46,X,del(X)(p21)(1例);46,X,psu,dic(X)(1例);46,XY(2例);46,XX,2p~-(1例);45,XX,rob(13;15)(1例);46,XX,22p~+(1例)。其中有12例涉及到性染色体数目和结构异常,3例为常染色体结构异常。并从闭经患者检查染色体的意义、Turner's综合征的细胞遗传学病因、核型46,XY的闭经患者的表型分析及常染色体畸变与闭经的关系等方面加以讨论。     

染色体与妇科疾患

应用人体染色体技术对疾病作诊断、预防和治疗已成为临床医学的一项重要内容。目前已发现100多种染色体异常疾患,本文就妇科疾患与染色体异常问题作一简述。一、原发性闭经和继发性闭经: 综合国内外文献报道,原发性闭经患者中28.8％有性染色体异常,其中46,XY占8.6％;45,X占11.6％,45,X嵌合体占6.8％;其它核型占1.8％。葛秦生等报告原发性闭经16例,其中9例进行了染色体检查,异常6例(46,XY5例;48,XXXX1例)。V.Niekerk报道77例原发性闭经中染色     

原发性闭经细胞遗传学病因探讨

目的探讨莆田市原发性闭经患者的细胞遗传学主要特征。方法77例原发性闭经患者经常规妇科检查、B超及内分泌功能检查后，采用细胞遗传学方法进行外周血淋巴细胞检查。结果77例原发性闭经患者中发现染色体异常20例，异常率为26％，包括性染色体数目、结构异常及嵌合体。其中46，XY4例，45，X6例，47，XXX1例，46，X，i(Xq)1例，嵌合体8例。结论对原发性闭经患者应常规进行外周血染色体检查，以明确闭经原因，及早对症治疗。     

116例闭经患者外周血淋巴细胞染色体分析

目的 探讨闭经患者与染色体异常的关系.方法 选择闭经患者116例,其中原发性闭经98例,继发性闭经18例,对其外周血淋巴细胞培养,按常规方法G显带制备染色体(必要时行C显带或 N显带),并进行染色体的核型分析.结果 116例闭经患者中发现47例染色体异常核型,占受检总数的40.52%.原发性闭经 98例,异常核型44例,占 44.90%;继发性闭经18例,异常核型3例,占16.67%.无论是原发闭经还是继发闭经患者,核型为46,XX最多见69例占受检总数的59.48%.异常核型全部涉及X染色体,其中以X染色体的数目异常23例,结构发生改变6例,嵌合体18例.X染色体的数目异常中以46,XY 12例和45,X 8例最多见分别占受检异常核型的25.53%、17.02%.X染色体结构发生变化包括染色体等臂、缺失及倒位等,其中以核型46,X,i(Xq)染色体结构发生变化多见,嵌合体中核型45,X/46,XX 占比例最高为8.51%.结论 结合临床体征和染色体检查,不仅为闭经患者寻找病因提供理论依据,而且有利于指导闭经患者的治疗.     

28例原发性闭经患者细胞遗传学研究

28例原发闭经患者经GTG核型分析,其中46,XX者10例,45,XO者9例,45,XO/46,XY者2例,45,X/47,XYY者1例,46,X,i(Xq)者3例,45,X/46,X,i(Xq)者1例,45,X/46,XXr者1例及46,XY睾丸女性化1例。染色体数目及结构异常皆属于Turner综合征,她们大多数有体矮,外阴幼稚型,第二性征发育差等体征。一例45,X/47,XYY已剖腹探查具两种性服亦属两性畸形。一例环状染色体为Xp~-,部分枝型分析为45,X/46,X,r(X)(p~(11)q~(28))。此外,本文对X染色体异常导致原闭及其对临床表型影响作了讨论。     

原发性闭经12例:染色体核型与临床表现

闭经是妇科常见病之一。从1982年4月～85年2月,我们在遗传咨询门诊遇到12例原发性闭经患者,其中4例染色体核型正常,均为46,XX;内三例诊断为先天性无阴道无子宫;6例先天性卵巢发育不全症(特纳氏综合征),核性分别为45,XO;46,X,i(Xq);45,XO/46,X,i(Xq)/47,X,i(XqXq)和45,XO/46,XXp~-。一例真性XY性腺发育不全症,染色体核型为46,XY。另一例睾丸女性化,染色体核型亦为46,XY,属男性假两性畸形。     

梧州地区原发闭经52例临床分析

通过观察原发闭经患者临床特点、诊治目的，探讨其诊断与治疗方法。方法：对52例原发闭经患者的临床表现、染色体核型、性激素测定及治疗结果进行回顾性分析。结果：52例原发闭经患者中，先天性无阴道28例，占53．85％；性发育异常22例，占42．31％；低促性腺性闭经2例，占3．85％。其中染色体核型为46，XX32例，45，XO及嵌合体18例；45，X0／46，XY及46，XY各1例。     

115例原发闭经患者的染色体分析

目的分析原发性闭经患者染色体异常情况并探讨其临床意义。方法对115例原发性闭经患者进行外周血培养、染色体制备及核型分析。结果115例原发闭经患者发现异常染色体核型47例,检出率40．9％。异常核型以45,X、45,X为主的嵌合体和46,XY多见。常染色体平衡易位1例,常染色体异常涉及到1、6,9、11、16号。有1种异常染色体核型属于世界首次报告。结论结合临床体征和染色体检查,可为原发性闭经患者寻找病因提供依据。     

闭经的细胞遗传学研究

目的： 研究原发性及继发性闭经患者的染色体核型,探讨各种异常核型的分布情况。方法：取外周血做淋巴细胞培养,制备染色体,采用Ｇ显带分析或常规染色体检查。结果：被检的４９３ 例患者中,２６８ 例为原发性闭经。异常染色体核型占４１．８ ％（１１２／２６８）,其中以４５,Ｘ及其各种嵌合型最多,占６５．２％ （７３／１１２）。４６,ＸＹ是原发性闭经另一类常见的异常核型,占２２．３ ％（２５／１１２）。２２５ 例继发性闭经中,异常核型占９．８％ （２２／２２５） ,其中Ｘ单体占２２．７％ （５／２２）。１５．２％ （５／３３）的Ｘ单体患者（ 原发性和继发性闭经）有月经初潮。结论：性染色体异常是导致原发性闭经的主要原因之一,亦是高促性腺素继发性闭经的主要病因。Ｘ 单体及其嵌合型是闭经的主要异常核型。Ｙ染色体的存在也可引起闭经。     

核型为45,X/46,XY的Turner综合征六例分析

目的 总结6例女性表型,染色体核型为45,X/46,XY的Turner综合征患儿的临床特征,探讨合理的治疗方案.方法 选取2008年7月至2014年7月在中山大学孙逸仙纪念医院儿科就诊的6例45,X/46,XY的Turner综合征患儿,社会性别均为女性.分析患儿的临床表现,检测性激素水平并行性腺B超、性腺病理活检.结果 6例患儿均有身材矮小.5例患儿表现为幼稚外阴,乳房不发育,阴毛无或稀少.5例卵泡刺激素(FSH)、黄体生成素(LH)高于正常水平,FSH为(36.05~110.78)IU/L,LH为(11~48.01)IU/L.6例B超示未见子宫或始基子宫、双侧卵巢显示不清.6例均行腹腔镜下双侧性腺切除术,2例病理示发现性腺母细胞瘤.术后4例行激素替代治疗,3例行重组人生长激素治疗.结论 45,X/46,XY的Turner综合征患儿常伴有身材矮小,应用重组人生长激素(rhGH)可改善身高.切除发育不良的性腺组织,可降低发生生殖细胞肿瘤的风险.     

46,XY单纯性性腺发育不全的临床分析

 目的 探讨染色体核型为46,XY单纯性性腺发育不全患者(合并或不合并卵巢肿瘤)的诊断和治疗。方法 分析1991年7月至2011年8月我院收治的6例染色体核型为46,XY单纯性性腺发育不全病例。所有病例均行剖腹探查术或腹腔镜手术。结果 所有患者的临床表现为原发闭经或继发闭经;乳房不发育或发育欠佳;阴毛、腋毛无或稀少;内外生殖器幼稚,有输卵管、卵巢、子宫及阴道。实验室检查FSH,LH均明显高于正常水平;染色体检查为46,XY。手术切除双侧性腺,病理提示6名患者中有4例发生卵巢肿瘤,肿瘤发生率高达66.7%。结论 及时确诊46,XY单纯性性腺发育不全十分重要,确诊后需立即切除双侧性腺以避免肿瘤的发生。     

染色体核型为45,X/46,XY的Turner综合征2例报道

本文对2例表型女性、染色体核型为45,X/46,XY的Turner综合征患者进行报道,并从发生率、发生机理、临床表现及治疗
等方面进行相关文献的复习,以引起临床对此类患儿更多了解和关注。
     

A rare case of ambiguous genitalia

Genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. However, genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on this process. Addition of X chromosomes to the 46,XY karyotype results in seminiferous tubules dysgenesis, hypogonadism and malformed genitalia. We report a term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis.     

Turner syndrome diagnosed in northeastern Malaysia

INTRODUCTION: Turner syndrome affects about one in 2,000 live-born females, and the wide range of somatic features indicates that a number of different X-located genes are responsible for the complete phenotype. This retrospective study highlights the Turner syndrome cases confirmed through cytogenetic analysis at the Human Genome Centre of Universiti Sains Malaysia, from 2001 to 2006. METHODS: Lymphocyte cultures were set up using peripheral blood samples, chromosomes were prepared, G-banded, karyotyped and analysed in accordance to guidelines from the International System for Human Cytogenetic Nomenclature. RESULTS: The various karyotype patterns observed were 45,X; 46,X,i, (Xq); 45,X/45,X,+mar; 45,X/46,X,i,(Xq) and 45,X/46,XY. The mean age of our patients with Turner syndrome was 21 years, and the most common clinical features encountered in all these patients were short stature (100 percent), primary amenorrhoea (85.7 percent), absence of secondary sexual characteristics (57.1 percent), scanty pubic and axillary hair (50 percent), webbed neck (42.9 percent), wide carrying angle (42.9 percent), rudimentary uterus with bilateral streak ovaries (42.9 percent), underdeveloped breasts (35.7 percent) and wide-spaced nipples (21.4 percent). CONCLUSION: Even though there is no causal therapy for Turner syndrome, management and treatment are possible for malformations and conditions associated with it. In addition, counselling of the parents and of the patients themselves are necessary. Hence, establishing an early diagnosis, educating and increasing awareness among doctors, and if possible, a prenatal diagnosis, will help in early intervention, genetic counselling and in improving the quality of life in these patients.     

The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis

Objective To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis.Methods Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-α-hydroxylase deficiency, 4 with true herm aphrodite, 2 with 45,X/46,XY gonadal dysgenesis, 1 with 45,X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY fema le who gave birth to a normal baby. SRY gene was detected by using polymerase c hain reaction (PCR) in blood and gonad samples and by direct sequencing of the S RY motif. Results Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed t he presence of testicular tissue, and 2 showed ovaries without testicular tissue . One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not wi th blood karyotype. The correlation between peripheral blood SRY and the pathol ogy of the gonads was 81.25% and the correlation between the presence of periph eral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutatio n.Conclusions SRY detection is more sensitive and specific than blood karyotype in the predic tion of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene.     

A novel mutation in the SRY gene of a Chinese 46,XY female patient with unilateral mixed germ cell tumor

Objective To determine the nosogenetic factors of a 46,XY female with primary amenorrhea and unilateral mixed germ cell tumor.Methods Eight genes associated with 46,XY gonadal dysgenesis were detected in the patient and her parents by target region captured-next generation sequencing.Results An insertion of a single nucleotide(adenine) at the coding site 230(c.230_231insA) located in the high mobility group(HMG) domain of SRY was revealed,which led to a truncated protein(p.Lys77 fsX 27). This mutation was at position 2655414 of the Y chromosome, supported with 127 unique mapped reads, however, this mutation was not found in the in-house dataset of 1 092 controls. Additionally, none of the candidate gene was detected in the patient's parents, which indicated that it is a de novo mutation.Conclusion A novel SRY sporadic mutation due to a single nucleotide insertion at position 230(c.230_231insA) was identified as the cause of the disease in this patient.Target region captured-next generation sequencing was found to be an effective method for the molecular genetic testing of 46,XY complete gonadal dysgenesis(46,XY CGD).     

138例闭经的细胞遗传学分析

本文对138例闭经患者进行了遗传咨询及外周血G显带染色体研究。其中发现核型异常的为51例,占37%。51例中有先天性卵巢发育不全49例,混合性腺发育不全2例。另外,138例中尚有11例为46,XY核型,占7.97%。