1例罕见47,XXX/47,XX,+21嵌合体患儿的细胞分子遗传学诊断

<正>21三体综合征即Down综合征,常见的标准核型为47,XX(或XY),+21,约占全部病例95%,嵌合体型21三体综合征约占本症的2%~4%,大部分患者的临床表现严重程度与正常细胞所占百分比有关,21-三体细胞株比例越高,智力落后及畸形的程度越重。47,XXX综合征又称多X综合征,是一种常见的性染色体非整倍体综合征。嵌合型47,XXX     

染色体46,XX/47,XXX/45,XO一例

目前已经发现了109种染色体综合征.染色体46,XX/47,XXX/45,XO嵌合体较为少见.我们发现一例,报告如下. 1 病历摘要 患者,女38岁,身高151公分,因高龄流产一次到医院遗传咨询.     

伴自然月经来潮的Turner综合征患者发生子宫内膜癌的风险增高:病例报道及文献回顾

背景:Turner综合征患者使用无孕激素对抗的雌激素诱导女性化,有增加子宫内膜癌的风险。据报道,仅7例未接受过雌激素替代疗法的患者在不同年龄阶段患子宫内膜癌。病例:1例有自然月经来潮的年轻Turner综合征患者,检测其外周血核型为45,X0/47,XXX,经过9年不规则月经周期之后,在21岁时被诊断为源于增生性子宫内膜息肉的非侵袭性高分化子宫内膜癌。FISH对卵巢组织的分析证实其核型是嵌合型:45,X0/46,XX/47,XXX。结论:卵巢分泌产生的内源性雌激素可能是引起此例恶性肿瘤的原因。患有Turner综合征且有自然月经来潮的女性可能患子宫内膜癌的…     

47,ⅩⅩⅩ及其变异(附4例报告)

本文报道4例47,XXX个体.2例47,XXX个体中,1例表现型正常,具有生育能力;1例伴有第二性征不发育,有异于一般47,XXX个体.另2例伴有其他染色体畸变,其核型分别为45,X/47,XXX和48,XXX,+18.文中对这两种类型作了简要地讨论。     

《贵州中医药大学学报》欢迎网上投稿

正网址:http://www. gyzx. cbpt. cnki. net/进"作者投稿系统"注册投稿,并在稿件中附有效联系邮箱及电话(邮箱及电话特别重要,请直接留在稿件中),方便论文修改。作者格式请按如下格式填写并请留下有效联系邮箱和电话(没有基金项目及通讯作者的,该两处不填写):基金项目:1. XXX课题,项目编号:XXX [2015] 7257号; 2. XXX课题,项目编号:XXXXX号。     

《贵州中医药大学学报》欢迎网上投稿

正1.网址:http://www.gyzx.cbpt.cnki.net/进"作者投稿系统"注册投稿,并在稿件中附有效联系邮箱及电话(邮箱及电话特别重要,请直接留在稿件中),方便论文修改。2.作者投稿前可在投稿网页"友情链接"处找到"万方检测"对论文重复率进行重复率检测,本刊拒收重复率超过20%的文章。3.作者格式请按如下格式填写并请留下有效联系邮箱和电话(没有基金项目及通讯作者的,该两处不填写):基金项目:1.XXX课题,项目编号:XXX[2015]7257号; 2.XXX课题,项目编号:XXXXX号。     

大规模平行测序无创基因检测用于胎儿染色体非整倍体异常产前诊断的临床价值

目的探讨大规模平行测序无创基因检测在胎儿染色体非整倍体异常产前诊断中的临床应用价值。方法选择预约做产前诊断的高危孕妇914例,按危险因素分为唐氏综合征筛查高危组563例,高龄妊娠组245例和其他原因组106例。抽取孕妇外周血,提取血浆DNA,制备测序文库,用高通量测序仪器检测,结果与人类的参考基因组比对;同时采集胎儿羊水,经细胞培养后行羊水细胞染色体核型分析。结果914例孕妇经大规模平行测序技术检出21-三体综合征高风险8例,18-三体综合征高风险3例,13-三体综合征高风险1例;与染色体核型分析相比,产前无创基因检测21-三体综合征、18-三体综合征、13-三体综合征的阳性预测值均为100%,而假阳性率均为0。914例样本中,检出45,X高风险3例、47,XXX和47,XXY高风险各2例;与染色体核型分析相比,产前无创基因检测45,X的假阳性率为0.11%,阳性预测值为66.7%,47,XXY和47,XXX的假阳性率均为0.22%,阳性预测值均为50%。结论大规模平行测序技术对胎儿常染色体非整倍体疾病的诊断,具有极高的阳性预测值,但对胎儿性染色体非整倍体异常的阳性预测值较低;只能作为一种高级筛查性检测而不是确诊方法。     

47,XXX男性综合征一例报告

一般来讲,核型为47,XXX的个体是一种较常见的表型为女性的性染色体病,然而47,XXX男性则极为罕见。1980年Bigojji等首次报告一例,国内文献尚未见报道。我室于1989年4月在遗传咨询门诊中发现一例,现报道如下。     

120对流产夫妇的细胞遗传学检查

本文分析了120对具有2次或以上早期流产夫妇的细胞遗传学检查。捡出异常核型10例,占10/120对(8.3％)。10例异常核型中,常染色体相互易位4例;分别为t(4;8);t(10;13),t(1;10);t(6;21);罗伯逊易位4例,其中3例为t(13;14),1例为(14;21);另2例为性染色体数目异常即47,XXX;45,X/46,XX/47,XXX。     

Zellweger综合征

Zellweger综合征是一种遗传性疾病。这种综合征的症状包括脑发育畸形和与肾、肝及其他组织和器官有联系的多种异常。例如,由于存在严重神经缺陷,许多系统的机能紊乱,通常在出生最初几个月内发生死亡.Zellwe-ger综合征病人细胞内的大多数细胞器表现正常,仅有一种细胞器——过氧化物酶体明显地没有完全形成并表现为机能紊乱。 Santos等仅在Zellweger综合征病人细胞     

Human Chromosomes: II. Preparation, Analysis and Diagnostic Implications of Abnormalities

This presentation is designed to show the diagnostic implications of chromosomal abnormalities, and how in some cases chromosome analysis may be helpful in prognosis and counselling. Most males with Klinefelter's syndrome have chromatinpositive nuclei and an abnormal sex chromosome complex (usually XXY). In Turner's syndrome many such females have chromatin-negative nuclei and a deficient sex chromosome complex (usually XO). Multiple-X females have unusual chromatin patterns (two or three masses of sex chromatin) and abnormal sex chromosome complexes (XXX, XXXX, XO/XXX, etc.). One of the parents of a translocation mongol may carry a translocation chromosome and pass it to future children. Cytogenetic data are therefore essential for genetic counselling. Mosaic and deletion mongols may show incomplete manifestations of mongolism, which make diagnosis difficult; chromosome analysis is helpful in diagnosis, and in prognosis concerning mental development. Abnormal chromosome numbers result from non-disjunction, usually during gametogenesis. The error may occur, however, during cleavage, producing cells with different chromosome complements (mosaicism). Visible structural abnormalities of chromosomes result from deletions or translocations of chromosome fragments.     

染色体数目异常胎儿的早、中孕期超声特征分析

目的 总结染色体数目异常胎儿的早、中孕期超声特征.方法 选取确诊为染色体数目异常的早中孕期胎儿53例,包括21-三体31例、18-三体12例、13-三体3例、45,XO 3例、47,XXX 1例、48,XXYY 1例、47,XXY 2例,对其超声检查结果进行回顾性分析.结果 共43例(81.1%)胎儿存在异常超声表现.单纯结构畸形8例(15.1%,8/53),包括18-三体3例、13-三体2例、45,XO 1例、48,XXYY 1例、47,XXY 1例;结构畸形合并超声软指标阳性8例(15.1%,8/53),包括21-三体2例、18-三体5例、13-三体1例;单独超声软指标阳性27例(50.9%,27/53),包括21-三体22例、18-三体2例、45,XO 2例、47,XXX 1例;超声未见异常10例(18.9%,10/53),包括21-三体7例、18-三体2例、47,XXY 1例.结论 常见染色体畸形中,大部分21-三体胎儿产前超声未表现出明显结构异常或仅见软指标异常,而18-三体、13-三体胎儿及45,XO胎儿通常因合并严重结构畸形而被产前超声检出.     

Chromosomal abnormality rates at amniocentesis and in live-born infants

Regression-smoothed maternal age-specific rates of six different categories of cytogenetic abnormalities in recent large-scale prenatal cytogenetic studies were multiplied by independently derived fetal selection coefficients--factors that adjust for the excess likelihood of spontaneous loss of cytogenetically abnormal fetuses--to obtain estimated maternal age-specific rates of these categories of cytogenetic abnormalities in live-born infants. The derived rates apply to women whose only risk factor is advanced maternal age. The categories analyzed were 47,+21 (Down's syndrome), 47,+18 (Edwards' syndrome), 47,+13 (Patau's syndrome), 47,XXY (Klinefelter's syndrome), 47,XXX, and the group of other clinically significant abnormalities considered collectively. The rate of all clinically significant abnormalities considered together derived in this study was about five per 1,000 at age 35 years, 15 per 1,000 at age 40 years, and 50 per 1,000 at age 45 years.     

湖南省工伤病人代谢综合征调查研究

目的:探讨2013年湖南省湘雅博爱康复医院工伤体检病人的代谢综合征发病情况,分析代谢综合征发病情况与工伤部位的关系。方法:调查收集湖南省湘雅博爱康复医院从2013年2月1日到2014年2月1日1718例湖南省工伤患者的体检报告,统计其体重指数、血压、空腹血糖、甘油三酯和高密度脂蛋白胆固醇数据。采用2004年中华医学会糖尿病学分会提出的"中国人代谢综合征"的诊断标准。结果:(1)湖南省湘雅博爱康复医院工伤病人代谢综合征发病率是12.92%,其中男性是14.47%,女性是5.46%;(2)随着年龄的增加发病率也增加,且在50岁以后发病率呈上升趋势;(3)在工伤分类中以四肢工伤、颅脑工伤、关节软组织工伤和手外伤发病率高。结论:工伤病人代谢综合征的发病率与工伤部位无直接关系;工伤病人随着年龄的增长代谢综合征的发病率增高。     

应用荧光原位杂交技术检测性染色体异常

探讨荧光原位杂交技术在性染色体异常诊断中的价值。方法：应用Ｘ、Ｙ染色体着丝粒探针,对１９例女性性腺发育不全及５例男性不育患者的外周血染色体或间期细胞进行杂交。结果发现的异常核型有：４６,Ｘ,ｒ（Ｘ）,４５,Ｘ／４６,Ｘ,ｒ（Ｘ）、４５,Ｘ／４６,Ｘ,ｄｉｃｉ（Ｙｑ）、４５,Ｘ／４６,ＸＹ、４５,Ｘ／４７,ＸＸＸ、４５,Ｘ／４６,ＸＸ／４７,ＸＸＸ、４５,Ｘ及４７,ＸＸＹ等类型。结论应用ＦＩＳＨ技术     

Frequency of 'chronic active Epstein-Barr virus infection' in a general medical practice

Twenty-one percent of 500 unselected patients, aged 17 to 50 years, seeking primary care for any reason were found to be suffering from a chronic fatigue syndrome consistent with "chronic active Epstein-Barr virus (EBV) infection," They had been experiencing "severe" fatigue, usually cyclic, for a median of 16 months (range, six to 458 months), associated with sore throat, myalgias, or headaches; 45% of the patients were periodically bedridden; and 25% to 73% reported recurrent cervical adenopathy, paresthesias, arthralgias, and difficulty in concentrating or sleeping. The patients had no recognized chronic "physical" illness and were not receiving psychiatric care. While antibody titers to several EBV-specific antigens were higher in patients than in age- and sex-matched controls subjects, the differences generally were not statistically significant. A chronic fatigue syndrome consistent with the chronic active EBV infection syndrome was prevalent in our primary care practice. However, our data offer no evidence that EBV is causally related to the syndrome. Indeed, we feel that among unselected patients seen in a general medical practice currently available EBV serologic test results must be interpreted with great caution.     

Chromosome studies in a neonatal population

The results of chromosome studies on 6809 consecutive newborn infants are presented. One hundred and one (1.48%) were heterozygous for a marker chromosome, the significance of which is not at present clear. Twenty-two infants (0.32%) had a major chromosome abnormality. Only six of these infants (0.09%) had a clinically recognizable abnormal phenotype (Down's syndrome). The occult chromosome abnormalities included five sex chromosome abnormalities (one 47,XYY; two 47,XXY; two 47,XXX) and 11 balanced translocations. Seven of these were t(DqDq) and four were reciprocal translocations. The results of the present survey are combined with four other similar neonatal surveys in which a total of 23,328 newborns have been screened. Of these, 117 (0.5%; range 0.65-0.32%) had major chromosome abnormalities. The majority of these (72.7%) would not have been detected at birth without chromosome studies, an important fact in the context of prenatal diagnosis of chromosome disease and the early ascertainment of high-risk families.     

Laparoscopic diagnosis and management of Fitz-Hugh-Curtis syndrome: report of three cases

Perihepatic adhesions between the liver capsule and the diaphragm or the anterior peritoneal surface characterizes Fitz-Hugh-Curtis syndrome (FHCS). FHCS is an extrapelvic manifestation of pelvic inflammatory disease and usually refractory to medical treatment and surgical intervention. With the increased incidence of pelvic inflammatory disease, chronic pelvic pain and sequalae of the process are becoming more common. Herein, we report 3 patients with pelvic inflammatory disease in whom medical treatment failed initially and FHCS was diagnosed via laparoscopy. Laparoscopic lysis of pelvic and perihepatic adhesions, irrigation of the abdomino-pelvic cavity, and antibiotics treatment after surgery successfully relieved these patients' symptoms. FHCS is not a new syndrome but most gynecologists might neglect this condition. Laparoscopy is a less invasive procedure than exploratory laparotomy. We recommend laparoscopy in patients with lower abdominal and right upper quadrant discomfort when other organic disease has been ruled out and medical treatment has failed to relieve symptoms.     

孕妇年龄影响胎儿性染色体非整倍体风险

目的: 分析孕妇年龄对胎儿性染色体非整倍体发生风险的影响。方法: 以2014年1月至2018年7月在浙江大学医学院附属妇产科医院行羊水染色体核型分析的孕妇为研究对象,分为非高龄组（≤28岁、>28~34岁）和高龄组（>34~ < 38岁和≥38岁）,比较各组间胎儿性染色体非整倍体的发生率。结果: > 34~ < 38岁组胎儿45,X的发生率低于≤28岁组（P < 0.05）;高龄组两个亚组胎儿总的性染色体三体的发生率高于非高龄组的两个亚组（P < 0.05或P < 0.01）;≥38岁组47,XXX发生率高于>28~34岁组（P < 0.05）;高龄两组47,XXY发生率高于非高龄组的两个亚组（P < 0.01）;各组间胎儿47,XYY发生率差异无统计学意义（P>0.05）。排除无创产前检测提示性染色体异常高风险孕妇后,高龄组两个亚组胎儿45,X发生率均低于≤28岁组（P < 0.05或P < 0.01）,且>34~ < 38岁组45,X发生率低于>28~34岁组（P < 0.05）;其余结果均与全部孕妇结果一致。结论: 孕妇年龄越大,胎儿45,X发生风险降低,但47,XXX和47,XXY的发生风险升高。     

多重定量荧光PCR在21-三体及性染色体多倍体畸变诊断中的应用

目的探讨多重定量荧光PCR(QF-PCR)技术在染色体非整倍体畸变诊断中的应用价值。方法抽取脐血样本16份,羊水样本73份,21、X、Y染色体数目异常患者及其父母外周静脉血71份,针对21号染色体和X、Y染色体上7个基因位点21S1435、D21S11、D21S1411、AMXY、DXS981、DXS6809和X22应用QF-PCR方法进行多重扩增,毛细管电泳法检测并分析结果。所有样本同时进行染色体核型分析。结果染色体核型分析中有129例为正常核型46,XX(XY);26例21-三体(其中1例为易位型,余为标准型);1例45,XO/46,XX;2例47,XXX;1例47,XXY;1例45,XX,der(13,21)。QF-PCR结果中,确诊1例47,XXY,26例21-三体征中23例确诊,2例47,XXX被提示可能存在性染色体数目异常,其余为阴性结果。结论多重定量荧光技术可用于染色体非整倍体畸变的快速诊断。