Turner综合征44例染色体核型与临床观察

Turner综合征在活产女婴新生儿中发病率为0.3-0.4%,在自发流产胚胎中,发生率可高达7.5%.是女性染色体畸变疾病中的常见病之一.自1992年至1999年间以身材矮小为主诉的患者44例经我院中心实验室染色体核型检查确诊为Turner综合征,现将核型与临床分析如下.     

64例Turner综合征的临床表现与染色体分析

我们对 6 4例不同程度 Turner综合征患者 ,进行了临床病理体征及染色体核型分析检查 ,现报告如下。1　对象与方法1.1　对象　对我院遗传咨询门诊 6 4例有不同程度 Turner综合征临床表现的患者 ,都作了临床病理性体征及染色体核型分析检查。1.2　方法　常规染色体培养制片 ,用 G、C分带 ,计数 5 0个染色体中期细胞分裂相 ,用电脑染色体图文分析系统采集 10个细胞进行染色体核型分析。发现患者有异常核型 5种 ,见表 1。2　结果2 .1　 6 4例患者中年龄最小为 1天 ,最大为 2 4岁 ,身高 5 5～ 14 4cm,其中 13岁以下患儿有 2 2例 ,由于年龄较小 …     

郑州地区18例Turner综合征细胞遗传学分析

Turner综合征又名先天性卵巢发育不全或性腺发育不全综合征。主要临床表现为:身材矮小、第二性征发育差,内外生殖器发育不良,原发闭经而导致不育,属于性染色体的数目和结构异常所致。现将我院确诊的18例Turner综合征异常核型分析报道如下。     

20例Turner综合征的诊断与治疗

本文讨论20例Turner综合征染色体核型检查和临床表现特点的关系,强调了染色体核型检查的重要性。提出了适龄生育对降低性染色体异常发病率的重要意义,早期诊断、治疗对减轻临床体征的积极作用,对Ulirich—Noonan综合征作性腺染色作分析的必要性。     

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。     

96例Turner综合征患者临床特征及染色体分析

目的Turner综合征患者身材矮小伴不同程度的性腺发育不全,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96例Turner综合征患者的染色体核型为：45,x,39例（40．6％）;45,Ⅺ／46,XX21例（21．9％）;46,XY11例（11．5％）;46,Xi（Xq）10例（10．4％）;46,X,del（x）（q22。qter）6例（6．3％）;45,X／46,Xi（X）（q10;q10）3例（3．1％）;47,XXX3例（3．1％）;45,X／46,X,del（X）（022—pter）2例（2．1％）;45,Ⅺ／46,X,r（X）（p22q28）1例（1．04％）。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。     

北海地区73例Turner综合征患者细胞遗传学分析

目的研究Turner综合征与细胞染色体异常之间的关系。方法采用外周血淋巴细胞培养,G显带技术染色体核型分析技术对73例Turner综合征患者进行核型分析。结果73例TurnerN合征患者的临床表型复杂,核型各异。其中以X单体型、嵌合型为主,还有X缺失型等。结论Turner综合征是,临床上女性患者不孕不育、身材矮小等的重要病因,无有效的方法,及旱确诊对该病的防治具有积极意义。     

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。     

181例Turner综合征染色体核型分析与性激素检测

目的分析Turner综合征患儿染色体不同核型的遗传学特征及其与性激素水平的关系。方法将181例Turner综合征患儿根据染色体核型分成3组进行统计分析,并对其中75例测定性激素患儿与30例健康女孩血清性激素水平进行比较,并作对照统计分析。结果 181例Turner综合征中检出45,X核型84例（46.4%）,嵌合型25例（13.8%）,X染色体结构畸变72例（39.8%）;45,X核型和结构畸变核型组患儿血清中促卵泡生成素（FSH）和促黄体生成素（LH）浓度明显高于对照组（P〈0.05）,嵌合体核型与对照组差异则无统计学意义;45,X核型组中有4例患儿血清FSH、LH处于正常水平。结论对于青春前期的生长落后女性患儿建议常规进行染色体核型分析,以排除染色体异常或明确诊断。多数TS患儿伴有血清性激素水平的异常。不同核型对性激素水平影响明显,性激素水平检测对了解Turner综合征患儿生殖内分泌状态非常必要,可以为激素替代治疗提供依据。     

苏州地区67例儿童Turner综合征临床特征与染色体分析

目的分析和探讨Turner综合征染色体核型与临床特征的关系。方法对67例自1988年至2008年期间来我院就诊的Turner综合征患儿体格检查和进行外周血染色体核型分析。结果Turner综合征患儿的临床表现主要为身材矮小、颈蹼、肘外翻、第二性征发育不良等,新生儿手足背淋巴水肿,部分表型男性患儿有尿道下裂、隐睾等;有12种核型,主要有X染色体数目异常42例（62.9%）、X等臂12例（17.9%）、X缺失3例（4.5%）、标记染色体6例（9.0%）、Y染色体4例（6.0%）。结论Turner综合征患儿的临床表现的核型有关,在儿科中对手足背淋巴水肿新生儿,身材矮小、第二性征发育不良、尿道下裂、隐睾等临床表现的儿童应做外周血染色体检查。     

兰州地区61例Turner综合征核型及临床特征分析

目的探讨Turner综合征患者的染色体核型异常与内分泌激素异常、发育异常和骨龄落后的关系。方法对61例Turner综合征患者进行染色体核型分析、内分泌激素六项检测、B超检查及身高评价。选择同期健康体检人群作为对照组。结果 Turner综合征染色体核型各异,患者表现为身材矮小和躯体畸形,B超检查患者无子宫和/或卵巢,与正常对照组相比发育明显落后（P〈0.01）;患者血清FSH、LH明显高于对照组,E2、P低于对照组,PRL、T无明显差异;身高及骨龄明显落后。结论 Turner综合征的染色体核型与患者临床表现相关,骨龄落后和身材矮小可能与SHOX基因缺乏、雌激素缺乏有关。     

特纳综合征患者的染色体核型及临床表现特点

目的:分析特纳综合征(Turner syndrome,TS)患者的染色体核型及临床特点,以提高对此病的认识和诊疗水平,为早期发现特殊核型提供临床依据.方法:对确诊患者的临床表现、性激素水平、骨龄及染色体核型等进行分析和总结.结果:24例确诊为TS患者,首发临床表现均为身材矮小,有50％骨龄比实际年龄延后;50％具有TS典型体征,83.33％有促性腺激素水平明显偏高,50％未见卵巢组织;染色体核型分析提示33.33％为45,XO,50％为45X嵌合体,其余为其他类型;16.67％的患者有垂体瘤,8.33％有心血管结构异常,部分患者心电图有异常,8.33％有促甲状腺激素水平增高;PCR检测SRY基因均阴性,未发现Y染色质.结论:TS患者因细胞核型的不同,临床表现有所差异,且各种核型与临床表现有时并不完全相对应;对于矮小症女童,应常规行染色体核型分析;对于出现不能由传统核型分析鉴定的特殊染色体或者核型为45,XO的患者尽早行Y染色体检测,有利于发现异常的Y染色体,为是否需要预防性切除性腺提供依据.     

Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome

Turner syndrome (TS) is a common disorder (1/2500 and 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood (usually due to growth retardation) or later, (due to lack of pubertal development) for the remaining patients. Here we present a cytogenetic and molecular analysis of three monozygotic sisters. The diagnosis of TS was done for one of them (patient 1) who presented with a typical Turner phenotype. A first karyotype was established as normal and a second karyotype (carried out on 200 cells) revealed a 45,X/46,XX mosaicism with 6% of cells with a 45,X karyotype. Lymphocyte karyotype analysis showed the same mosaicism pattern for the two other sisters, one of them exhibiting only a mild (patient 2) and the other no clinical features of Turner syndrome (patient 3). Karyotype analysis was this time conducted on fibroblasts and showed that the 45,X/46,XX mosaicism pattern correlated with the clinical phenotype with 99, 43 and 3% of 45,X cells in patients 1, 2, and 3, respectively.
These data suggest that different tissues other than lymphocytes should be subjected to a karyotype analysis when the observed genotype does not correlate with the clinical phenotype.     

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。     

7号染色体臂间倒位伴Turner综合征家系分析

目的研究7号染色体臂间倒位的遗传机制.方法患儿及父母作染色体检查,并对患儿的家系进行调查.结果患儿的染色体核型为46,XX,inv(7)(p22q11)/45,X,inv(7)(p22q11),其中46,XX,inv(7)(p2q11),85%,45,X,inv(7)(p22q11),15%.父亲的核型为46,XY,inv(7)(p22q11),母亲的染色体正常,患儿的母亲第1胎为3月自然流产,家系中其他成员均无流产史,母系成员中身材均偏矮小.结论染色体臂间倒位能引起流产和畸胎,应作产前诊断.     

Turner syndrome: searching for better outcomes

OBJECTIVES: To assess the results of growth hormone on the growth of girls with Turner Syndrome and identify relevant parameters to improve outcomes. METHODS: Growth velocity and final height were studied in a historical cohort of 41 girls, regularly followed up for hormone distribution at three referral centers. The influence of oxandrolone and of estrogens on the final height was analyzed. The girls (initial chronological age=8.9+/-3.4years; initial bone age=7.0+/-3.1years) used 0.19 mg/kg/week of growth hormone for 4.0 +/- 2.0 years. RESULTS: In the first year, growth velocity increased by 71.5% in 41 girls and 103.4% in those who reached final height (11 girls). The whole group had a gain in the height SDS of 0.8 +/- 0.7 (p<0.01) and for those who reached a final height of 1.0 +/- 0.8 (p<0.01). Final height (143.6 +/-6.3 cm) was 3.9 +/- 5.3 cm higher than the predicted height, and the height gain occurred before estrogen therapy. Oxandrolone had no significant influence on height gain. The significant variables contributing to the final height were the duration of growth hormone used and its use prior to starting estrogens, the initial height SDS, and the growth velocity during the first year of treatment. CONCLUSIONS: We concluded that the use of growth hormone significantly increased the final height, which remained lower than the target. Results point to a need for starting growth hormone use as early as possible and to maximize treatment before estrogen replacement. It has been observed that even moderate doses of growth hormone may significantly increase early growth velocity.     

Fertility and pregnancy outcome in Danish women with Turner syndrome

The aim of the investigation was to study fertility in Danish women diagnosed with Turner syndrome (TS), and to describe their offspring. In total, 410 women in the fertile age were registered in the Danish Cytogenetic Central Register with TS between January 1973 and December 1993. Their karyotype were as follows: 49% with 45,X, 23% with mosaicism and a structural abnormality of the second X, 19% with 45,X/46,XX mosaicism, and 9% with 46,XX and a structural abnormality of the second X. Thirty-three women, one with 45,X, 27 with mosaicism and 5 with 46,XX and a structural abnormality of the second X, gave birth to 64 children. Two women had become pregnant after in vitro fertilization, including a woman with 45,X after an egg donation. Thus, 31 women(7.6%) had achieved at least one spontaneous pregnancy, but 48% of the fertile women registered with 45,X/46,XX had 45,X in less than 10% of the analysed cells. Twenty-five of the 64 children had a chromosome analyzed. Six of the 25 examined children, including three siblings, had chromosomal aberrations. No case of Down's syndrome was present, and only two children had malformations. Fertility in women registered with TS is higher than earlier reported. However, only women with 45,X/46,XX mosaicism or 46,XX and structural abnormality of the second X, gave birth to live children after spontaneous pregnancies.