21例Turner综合征细胞遗传学临床分析

目的通过对Turner综合征患者的临床遗传学分析,探讨X性染色体异常与女性的生长迟缓、性发育不良、特殊身躯特征等之间的关系。方法对21例Turner综合征患者进行常规外周血淋巴细胞培养方法制备染色体标本,G显带技术进行细胞遗传学分析;同时进行B超、内分泌功能测定、腹腔镜等多项临床检查;病因和误诊原因经验分析。结果 21例患者中单体型10例,嵌合体型5例,结构异常型6例;女性只有存在两条完整的X染色体,才能有正常女性性腺和性征发育;女性正常身高发育与X染色体短臂上的基因相关。结论 X染色体的数目和结构异常是导致Turner综合征的重要原因之一;对Turner综合征患者进行细胞遗传学临床分析,确定病因和类型,为治疗提供依据。     

SHOX基因缺陷与身材矮小症研究进展

位于X和Y染色体拟常染色体区域的SHOX基因与软骨发育相关。近年来发现该基因的缺陷是特发性身材矮小、Turner综合征、Leri-Weill软骨发育异常和Langer肢中骨发育不良等多种疾病发生的一个重要因素。本文综述了与SHOX基因缺陷相关软骨发育异常的临床表现。     

46,XX男性综合征患者的细胞和分子遗传学研究

目的探讨SRY阳性的46,XX男性综合征患者的临床及细胞分子遗传学特征。方法对其外周血淋巴细胞进行染色体核型分析;同时提取外周血基因组DNA,进行SRY基因检测,并以正常男性及女性作对照。结果患者染色体核型为46,XX,SRY基因存在。结论基因组中存在SRY基因可能与该例46,XX男性综合征患者为男性表型密切相关,对其进行检测有利于明确性反转综合征的临床诊断,通过染色体核型分析和分子遗传学检测,可为性发育异常患者明确病因,并为其治疗提供依据。     

云南地区89例儿童特纳综合征临床与细胞遗传学研究

目的 观察分析云南地区89例儿童特纳综合征（TS）染色体核型及临床特征。方法 选择2013—2022年在昆明市儿童医院诊断为TS的儿童89例，对患儿临床表现与染色体核型进行分析。结果 89例患者平均诊断年龄（10.7±3.3）岁，平均身高（119.6±14.2）cm，身高落后（3.8±1.5）SDS。核型表现为单体型51例（56.7%），单纯结构异常型7例（7.8%），单纯嵌合型8例（8.8%），嵌合+结构变异型24例（26.7%），发现1例45,X/47,XXY嵌合型；3例小标记染色体。单体型（45,X）和其他核型的生长激素激发峰值转换为正态分布后，使用两独立样本t检验（t=–2.363,P=0.021），提示差异无统计学意义。45例患儿使用了重组人生长激素（rhGH）治疗，起始治疗年龄（11.4±3.3）岁。28人治疗满1年，年生长速率（8.0±1.6）cm;12人治疗满2年，年生长速率（6.7±1.4）cm;3人治疗满3年，年生长速率（7.3±3.1）cm。结论 特纳综合征临床诊断年龄较晚，需提高临床医生的临床意识，生长激素激发试验对TS患者诊治的指导意义有限，矮小联合高促卵泡生...     

6p25.3杂合缺失伴15q部分三体患者1例的临床表型与遗传学分析

目的探讨1例6p25.3杂合缺失伴15q部分三体患者的临床表型及遗传学特征。方法选取2021年5月14日就诊于郑州大学第一附属医院遗传与产前诊断中心的1例发育异常患者为研究对象。收集患者临床资料, 应用染色体G显带核型分析和拷贝数变异测序(CNV-seq)技术对其进行遗传学分析。结果患者主要临床特征为完全性子宫纵隔、阴道纵隔、左眼球萎缩、手指和脚趾异常以及精神发育迟滞。患者核型分析结果为46, XX, der(6)t(6;15)(p25.3;q26.1)。CNV-seq结果提示其染色体6p25.3区和15q26.1q26.3区分别存在1.20 Mb的杂合缺失和10.20 Mb的重复, 其中杂合缺失片段包含FOXQ1基因, 可能与患者左眼发育异常相关, 重复片段与15q26过度生长综合征96.16%的区域重叠(包括IGF1R基因), 可能与患者苗勒氏管发育异常、手指和脚趾异常、精神发育迟滞相关。结论染色体6p25.3区杂合缺失和15q26.1q26.3区重复可能是导致患者异常临床表型的遗传学病因。     

80例原发性闭经患者的细胞遗传学分析

目的总结归纳原发性闭经患者的细胞遗传学检测结果及临床特征,分析原发性闭经和染色体异常之间的相关性。方法统计2015年1月至2019年12月在防城港市妇幼保健院就诊的80例原发性闭经患者,行染色体核型分析。结果 80例原发性闭经患者,56例染色体核型正常,24例核型异常,异常率为30.00%(24/80)。24例异常核型主要为11例45,X;6例嵌合特纳综合征;1例X染色体部分缺失;1例常染色体平衡易位;2例涉及X染色体的平衡易位;以及3例46,XY。结论染色体异常是原发性闭经的重要原因之一,对原发性闭经患者应进行外周血染色体核型检测,为原发性闭经尽早诊断和对症治疗提供理论依据。故临床诊断为原发性闭经患者,行染色体核型检查显得尤为重要,早期诊断,为下一步临床诊治提供依据。     

性腺发育及生育功能异常的染色体分析CSCD

【摘要】目的分析性腺发育及生育功能异常患者的染色体核型。方法对因原发闭经、性腺发育异常、卵巢功能早衰、不孕不育等原因就诊的患者进行染色体核型分析。结果在1386例患者中,共114例存在染色体异常,异常率为8．2％。性染色体异常52例,占异常核型的45．6％。其中特纳综合征24例,占性染色体异常的46．2％;克氏综合征18例,占34．6％;47,XYY3例、47,XXX3例、性反转2例、两性畸形2例,比率分别为5．8％、5．8％、3．8％、3．8％。结论性染色体异常是导致原发闭经、性腺发育异常、卵巢功能早衰、不孕不育等疾病的重要原因之一,对该类患者应做到早诊断、早治疗。     

46,XX男性/46,XY女性综合征病例分析

目的报告2例性反转综合征病例,探讨性反转综合征的遗传学机制及性别决定基因在人类性腺分化和性别发育中的作用。方法细胞遗传学染色体核型分析以及PCR技术检测外周血SRY基因。结果病例1患者的外周血染色体核型为46,XX,SRY( )。诊断为46,XX男性性反转综合征;病例2的患者外周血染色体核型为46,XY,SRY( )。诊断为46,XY女性性反转综合征。结论细胞遗传学核型分析结合PCR技术检测SRY基因,是诊断性别发育异常患者的重要手段。SRY基因检测比Y染色体更能预示睾丸组织的存在。除SRY基因外,还存在多个参与性别决定和分化的基因,性分化异常表现高度遗传异常性。     

6O例先天性卵巢发育不全综合征的临床及细胞遗传学研究

先天陛卵巢发育不全综合征是以索条状性腺、性器官幼稚、原发闭经、女性第二性征缺如、体矮等一系列躯体畸形为特征的综合征。其症状在1938年首次由Turner描述。1959年Ford发现特纳综合征是由于缺少一条X染色体所致，1966年Moore证实Turner综合征患者染色体异常。     

54例特纳综合征绒毛染色体核型分析及遗传咨询

目的对早孕期绒毛标本进行染色体核型分析,探讨特纳综合征的临床意义及遗传咨询。方法对2012年1月到2015年12月在广西壮族自治区妇幼保健院遗传门诊就诊的患者,产前诊断抽取绒毛组织,常规G显带进行染色体核型分析。结果受检者3082例绒毛标本中检测出54例Turner综合征。染色体核型以X单体型、嵌合型为主;其中45,X 33例,在异常核型中占61.1%,嵌合体(包含有Y染色体核型)16例,在异常核型中占29.6%。X染色体结构异常2例,在异常核型中占3.7%等。结论 Turner综合征患者有身材矮小、第二性征发育不良等典型的临床表现,早孕期检测出特纳综合征,应做好产前诊断遗传咨询。     

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。     

Investigation of Turner syndrome in schizophrenia

Both Turner syndrome and schizophrenia are relatively infrequent conditions. Consequently, individuals having both illnesses are rare. Previous reviews of sex chromosome abnormalities in schizophrenia have focused primarily on the presence of supernumerary X-chromosomes. After identifying two female patients with schizophrenia and Turner syndrome, we reevaluated the available literature that survey female schizophrenics for the presence of chromosomal abnormalities. Eleven patients with Turner syndrome were identified among 6,483 females with schizophrenia in non-case-report studies. These survey results indicate that Turner syndrome occurs approximately three-fold more frequently in schizophrenic females than in the general female population (P < 0.02). Including 6 other case reports and our 2 cases, a total of 19 females with both schizophrenia and Turner syndrome were reported. Interestingly, whereas most Turner syndrome patients have the 45,X karyotype, the majority (18/19) of women with both illnesses have a mosaic karyotype (P < 0.0002). Given the potential role of genes on the X-chromosome in the pathogenesis of schizophrenia, the study of unique populations with abnormalities in this chromosome, such as women with Turner syndrome, may offer clues into this illness.     

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。     

Turner综合征合并海蓝组织增多症一例并文献复习

目的探讨先天性卵巢发育不全综合征与海蓝组织增多症的相关性,为诊断及治疗提供依据。方法对1例Turner综合征合并海蓝组织增多症患者的临床资料进行回顾性分析并进行文献复习。结果该例患者本次发病主要为抵抗力低下所致呼吸系统感染,经抗炎及对症支持治疗,目前已恢复平素状态。结论 Turner综合征为染色体缺陷疾病,可伴有多种激素水平的改变,海蓝组织增多症亦可由原发性染色体缺陷引起或继发于激素水平改变引起。体内雌二醇、睾酮、泌乳素及生长激素等多种激素的部分或全部缺失,以及伴随的糖脂代谢紊乱,使得Turner综合征与SBH两者之间的相关性有待于更多,更完善的相关资料的支持。     

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

PurposeMost chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.MethodsWe extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf–Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.ResultsOur data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.ConclusionOur study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.     

Turner syndrome may be associated with hepatic adenoma

Turner syndrome, caused by complete or partial loss of an X chromosome, is marked by a range of clinical manifestations including short stature, cardiovascular and renal disease. Hepatic involvement is an increasingly recognized concern. Steatosis and elevated transaminases are commonly observed in this population, but case reports have also described hepatic adenoma. Hepatic adenomas are rare, occurring in one per million people in the general population. They are typically benign but malignant transformation or rupture can occur. We sought to investigate whether Turner syndrome is associated with hepatic adenoma. Patients with Turner syndrome encountered at a single, academic institution between 2006 and 2020 were identified using ICD-10 codes and demographic, medication, laboratory, and imaging data were analyzed. Of the 228 patients identified, 46.9% had liver function testing, which were abnormal in 48.6%. Five of 77 patients with hepatic imaging had abnormalities. Three patients (1.3%) had hepatic adenoma, one after presenting in hemorrhagic shock due to rupture. These findings suggest that patients with Turner syndrome may have an increased risk for developing hepatic adenoma. Annual monitoring of liver function tests is already recommended in Turner syndrome. The addition of periodic hepatic imaging may also be beneficial.     

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

BACKGROUND—Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of SHOX causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.
METHODS—Fluorescence in situ hybridisation (FISH) analysis with PAC clones on nine patients with partially deleted X chromosomes was performed.
RESULTS/DISCUSSION—The Turner syndrome stigmata for each patient are described and correlation between the breakpoint and the phenotype discussed. A lymphoedema critical region in Xp11.4 is proposed and its gene content discussed with respect to that in the previously reported Yp11.2 lymphoedema critical region.


Keywords: Turner syndrome; lymphoedema; Xp11.4     

Is there an influence of X‐chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Studies on Turner syndrome suggested the presence of X‐chromosomal‐imprinted genes involved in social and verbal cognition. Imprinted genes on autosomes were shown to affect growth. Could imprinting of such genes on the X chromosome also influence psychomotor development and growth in men with Klinefelter syndrome (KS), who have a supernumerary X? We recorded anthropometric and psychomotor development parameters for 61 males with KS (age range 2–56 years). In 54 cases, we were able to assess intelligence quotient (IQ) and found that impaired speech – and motor developmental problems were reported significantly more often in the paternal X – than in the maternal X group (P = 0.02). We found some significant (P < 0.05) increased body size parameters in the paternal X group, which concurs with data reporting a growth promoting influence of paternally derived genes. Our results suggest X‐chromosomal imprinting occurs in males with KS.