共查询到20条相似文献,搜索用时 7 毫秒
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Canto P Kofman-Alfaro S Jiménez AL Söderlund D Barrón C Reyes E Méndez JP Zenteno JC 《Cancer Genetics and Cytogenetics》2004,150(1):70-72
Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy. Studies in TS patients with different karyotypes have demonstrated the presence of Y-chromosome-derived sequences (4-61%). Early detection of Y-chromosome sequences in TS is of great importance because of the high risk of gonadal tumor development. We investigated the presence of Y-chromosome sequences in TS patients with a 45,X karyotype. One hundred seven unrelated 45,X Mexican TS patients recruited between 1992 and 2003 were included. Y-chromosome-derived sequences were found by polymerase chain reaction in 10 (9.3%) patients. Six subjects underwent gonadectomy and in one of them a gonadoblastoma was found; another developed a gonadoblastoma with dysgerminoma. Because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given. 相似文献
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M-R. Verschraegen-Spae H. Dapypare F. Spalaman M. Dhondt A. Da Paepe 《Clinical genetics》1992,41(4):218-220
A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductive life-span. Phenotypic implications of the cytogenetic findings in the patients are discussed, and literature data on fertility in Turner syndrome are briefly reviewed. 相似文献
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Shanlee M. Davis Mitchell E. Geffner 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(1):60-66
Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life. The etiology of the increased risk of cardiometabolic conditions in TS is likely multifactorial, involving genetics, epigenetics, hypogonadism, medical comorbidities, medications, and lifestyle. Counseling for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS. Clinical practice guidelines are now available to guide screening and treatment of cardiometabolic conditions in girls and women with TS. 相似文献
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We describe two Turner patients suffering from severe essential hyperhidrosis. Since both disorders are rare (1 in 5000 live female births for Turner syndrome and approximately 1 in 1000 persons for essential hyperhidrosis), our finding of two patients with these disorders in a total of 150 essential hyperhidrosis patients may suggest that this association is more frequent in Turner syndrome than previously thought. 相似文献
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Short stature is an almost universal feature of Turner Syndrome (TS) with patients having a mean adult height up to 20 cm less than that of the general female population. As a result a significant focus of medical management in TS is on growth promoting strategies. The aim of this study was to assess factors influencing final height in those with TS and evaluate the response to various treatments. A retrospective study was performed in 2 Dublin centres. The age of commencement, cessation, dose and duration of treatment was calculated for growth hormone, oestrogen and oxandrolone, either alone or in combination. Additional factors known to influence growth in TS were also examined. The mean final height achieved was 147.31 cm (SD 4.77), the mean predicted height was 142.81 (SD 5.63). Height gain was 4.28 cm (SD 4.93). All patients received growth hormone. 75% of patients received oestrogen and 35% received oxandrolone. The maximal height gain of 6.71 cm (SD 2.43) in the triple therapy group. Parental height was found to have a significant correlation with final height (r=0.591). Spontaneous menarche in TS was associated with a poor adult height (r=-0.522), mean height 144.03 cm (SD 3.23) whereas those with induced menarche had a mean height of 148.43 cm (SD 4.67). Growth hormone therapy improves the mean final height in TS. However, the degree of height gain is influenced by confounding variables of parental height and age and tempo of puberty and treatment variables. 相似文献
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《European journal of medical genetics》2014,57(6):269-274
Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. 相似文献
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Investigation of Turner syndrome in schizophrenia 总被引:1,自引:0,他引:1
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. 相似文献
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《Genetics in medicine》2010,12(1):52-55
Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome. Several clinical guidelines on the diagnosis and management of patients with Turner syndrome have been published, but there is relatively little on the laboratory aspects associated with this disorder. This disease-specific laboratory guideline provides laboratory guidance for the diagnosis/study of patients with Turner syndrome and its variants. Because the diagnosis of Turner syndrome involves both a clinical and laboratory component, both sets of guidelines are required for the provision of optimal care for patients with Turner syndrome. 相似文献
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Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp--; two cases with 45,X/46,X,r(X); one case with 45,X/47,XYY; and one case with 46,XY. 相似文献
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Most patients with gonadoblastoma have dysgenetic gonads. This rare tumour has been described in three pregnant women. A fourth case in a 26 year old pregnant woman who presented with gonadoblastoma and dysgerminoma, is reported. She had a normal term pregnancy, 46XX chromosomes, normal genitalia, no history of menstrual irregularities and no signs of hyperandrogenism, thereby differing from the other reported cases. The germ cell component of this patient's tumour had undergone rapid overgrowth, most of the tumour comprising pure dysgerminoma. It is suggested that gonadoblastoma may occur in functionally and morphologically normal gonads more often than previous case reports imply. 相似文献
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In this report we summarize our experience in 4 patients with 45,X/46,XY, one patient with 45,X/47,XYY mosaicism, and one patient with 46,XY karyotype and ambiguous external genitalia. In the 3 patients with a fluorescent Y-chromosome, the development of one or two gonadoblastomas was found, independent of the age of the patients at the time of examination. In the 3 patients with 45,X/46,XYnf mosaicism no gonadoblastoma was detected. This finding prompted us to review the data on patients reported with 45,X/46,XYnf mosaicism. Up to now, no patient with well documented 45,X/46,XYnf mosaicism and convincing evidence of development of gonadoblastoma has been reported. These data seem to confirm that alterations of the characteristic distal fluorescence of Yq may protect the dysgenetic gonad against tumoral degeneration in patients with 45,X/46,XY mosaicism. Possible mechanisms responsible for these changes in the oncogenic potential of Yq in relation with the Y chromosome fluorescence are discussed. 相似文献
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Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM
and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,
X), thyroiditis being the most common. 相似文献
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《Genetics in medicine》2018,20(6):664-668
PurposeAdults with Turner syndrome (TS) have an increased predisposition to ischemic heart disease. The quantitative relationship between coronary atherosclerosis and TS has yet to be established.MethodsA total of 128 females (62 with TS) participated in this prospective study. Coronary computed tomography angiography was performed to measure coronary calcified plaque burden, and prevalent noncalcified plaque burden. Regression analysis was used to study the effects of TS and traditional cardiovascular disease risk factors on coronary plaque burden.ResultsAdults with TS were 63% more likely to have coronary calcifications than controls (odds ratio 1.63, 95% confidence interval: 1.02, 2.61, P = 0.04), with an age cutoff of 51.7 years for a probability of >50% for the presence of coronary calcifications, when compared to 55.7 years in female controls. The average age of TS patients with calcified plaques was significantly lower than that of controls with calcified plaques (51.5 ± 8.9 years vs. 60.5 ± 7.0 years, P < 0.001). Age increased the likelihood of coronary calcifications by 13% per year (odds ratio 1.13, confidence interval 95%: 1.07–1.19, P < 0.001).ConclusionThis study demonstrates a higher prevalence and earlier onset of calcified coronary plaques in TS. These findings have important implications for cardiovascular risk assessment and the management of patients with TS. 相似文献
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