Database : MEDLINE
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[PMID]: 29515721
[Au] Autor:Atmane A; Hammi S; Regragui A; Raoufi M; Marc K; Soualhi M; Zahraoui R; Benamor J; Bourkadi JE
[Ad] Address:Service de Pneumo-phtisiologie, Hôpital Moulay Youssef, Faculté de Médecine et de Pharmacie, Université Mohammed V, CHU Ibn Sina, Rabat, Maroc.
[Ti] Title:Mode révélateur original et localisation métastatique particulière d'un synovialo-sarcome chez un adulte immunocompétent: à propos d'un cas avec revue de la littérature. [Initial manifestation and atypical site for metastatic synovial sarcoma in an immunocompetent adult patient: about a case and literature review].
[So] Source:Pan Afr Med J;28:103, 2017.
[Is] ISSN:1937-8688
[Cp] Country of publication:Uganda
[La] Language:fre
[Ab] Abstract:Synovial sarcoma (SS) is a rare tumor. It is characterized by various sites of occurrence but rarely involves the chest. The tumor may be wrongly diagnosed as benign due to its slow growth. Less than 10% of patients present with metastatic cancer. Endobronchial metastases are exceptional. Immunohistochemical examination and cytogenetic analysis allow to distinguish it from other mesenchymal tumors. The presence of SYT-SSX fusion transcript allows the diagnosis. Surgery is used for localized tumors that can be treated with radiation therapy while chemiotherapy is used for metastatic tumors. The average rate of locoregional or metastatic recurrence two years after SS is 50%. We report the case of a 28-year old patient with metastatic SS characterized by its uncommon metastatic site. He presented with endobronchial metastasis revealing his disease, that had evolved for more than 2 years. The SS is life-threatening due to its slow and insidious growth. Prognosis is guarded. This study aimed to emphasize this atypical site for metastatic synovial sarcoma as well as to insist on the role of early diagnosis and treatment.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process
[do] DOI:10.11604/pamj.2017.28.103.13200

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[PMID]: 29515104
[Au] Autor:Schanz J; Cevik N; Fonatsch C; Braulke F; Shirneshan K; Bacher U; Haase D
[Ad] Address:Department of Hematology and Medical Oncology, University Medicine Göttingen (UMG), Göttingen, Germany. julie.schanz@med.uni-goettingen.de.
[Ti] Title:Detailed analysis of clonal evolution and cytogenetic evolution patterns in patients with myelodysplastic syndromes (MDS) and related myeloid disorders.
[So] Source:Blood Cancer J;8(3):28, 2018 Mar 07.
[Is] ISSN:2044-5385
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Clonal cytogenetic evolution (CE) (i.e., acquisition of new chromosomal aberrations over time) is relevant for the progression of myelodysplastic syndromes (MDS). We performed detailed analysis of CE in 729 patients with MDS and related disorders. Patients with CE showed shorter survival (median OS 18.0 versus 53.9 months; P < 0.01), higher leukemic transformation rate (48.0% versus 21.4%; P < 0.01) and shorter intervals to leukemic transformation (P < 0.01). Two main CE patterns were detected: early versus late CE (median onset 5.3 versus 21.9 months; P < 0.01) with worse survival outcomes for early CE. In the case of CE, del (7q)/-7 (P = 0.020) and del (17p) (P = 0.002) were especially unfavorable. Extending the evolution patterns from Tricot et al. (1985) forming five subgroups, prognosis was best (median OS not reached) in patients with "transient clones/changing clone size", whereas those with "CE at diagnosis" showed very poor outcomes (P < 0.01 for comparison of all). Detailed sequential cytogenetic analysis during follow-up improves prognostication in MDS patients and acknowledges the dynamic biology of the disease. Evidence, time-point, and patterns of cytogenetic clonal evolution should be included into future prognostic scoring systems for MDS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1038/s41408-018-0061-z

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[PMID]: 29523172
[Au] Autor:Maini I; Ivanovski I; Djuric O; Caraffi SG; Errichiello E; Marinelli M; Franchi F; Bizzarri V; Rosato S; Pollazzon M; Gelmini C; Malacarne M; Fusco C; Gargano G; Bernasconi S; Zuffardi O; Garavelli L
[Ad] Address:Clinical Genetics Unit, Maternal and Child Health Department, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
[Ti] Title:Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
[So] Source:Ital J Pediatr;44(1):34, 2018 Mar 09.
[Is] ISSN:1824-7288
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. METHOD: We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and/or MCA and/or dysmorphisms, investigated through aCGH between 2005 and 2016. The aim of the study was to analyze clinical and molecular cytogenetic data in order to identify what elements could be useful to interpret unknown or poorly described aberrations. Comparison of phenotype and cytogenetic characteristics through univariate analysis and multivariate logistic regression was performed. RESULTS: Copy number variations (CNVs) with a frequency < 1% were detected in 225 patients of the total sample, while 68 patients presented only variants with higher frequency (heterozygous deletions or amplification) and were considered to have negative aCGH. Proved pathogenic CNVs were detected in 70 patients (20.6%). Delayed psychomotor development, intellectual disability, intrauterine growth retardation (IUGR), prematurity, congenital heart disease, cerebral malformations and dysmorphisms correlated to reported pathogenic CNVs. Prematurity, ventricular septal defect and dysmorphisms remained significant predictors of pathogenic CNVs in the multivariate logistic model whereas abnormal EEG and limb dysmorphisms were mainly detected in the group with likely pathogenic VOUS. A flow-chart regarding the care for patients with NDD and/or MCA and/or dysmorphisms and the interpretation of aCGH has been made on the basis of the data inferred from this study and literature. CONCLUSION: Our work contributes to make the investigative process of CNVs more informative and suggests possible directions in aCGH interpretation and phenotype correlation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Process
[do] DOI:10.1186/s13052-018-0467-z

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[PMID]: 29522714
[Au] Autor:Chen Z; Raghoonundun C; Chen W; Zhang Y; Tang W; Fan X; Shi X
[Ad] Address:Department of General Surgery, Zhongda Hospital, Medical School, Southeast University, 87 Dingjiaqiao, Nanjing 210009, People's Republic of China.
[Ti] Title:SETD2 indicates favourable prognosis in gastric cancer and suppresses cancer cell proliferation, migration, and invasion.
[So] Source:Biochem Biophys Res Commun;, 2018 Mar 06.
[Is] ISSN:1090-2104
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:SET domain containing protein 2 (SETD2, also known as HYPB) is a 230-kD protein which is located at cytogenetic band p21.31 of chromosome 3. SETD2 is usually transformed or eradicated in multiple forms of tumours in humans. However, its primary function in gastric cancer (GC) remains unclear. In the current study, we investigated the mRNA and protein expression levels of SETD2 using immunohistochemistry, qPCR, RT-PCR, and immunoblotting. The function of SETD2 in GC cells was investigated by MTT and transwell assays. Our results revealed remarkably lower levels of SETD2 mRNA and protein in the tumour samples than in tumour-adjacent tissues. Decreased expression of SETD2 mRNA was observed in 122 (79.7%) of 153 primary tumour tissue samples. On the basis of the overall survival analysis, we could interpret that a low expression of SETD2 was correlated with a poor prognosis (P < 0.001, log-rank test). Multivariate survival analysis indicated that SETD2 was an obvious prognostic factor in patients with GC. SETD2 overexpression in GC cell lines significantly inhibited cell proliferation, migration, and invasion. Altogether, the investigation demonstrated the clinical significance of SETD2 expression, supporting the fundamental principle that a decrease in its level is an unfavourable event in the progression and prognosis of GC. Therefore, down-regulated SETD2 can presumably be a potential negative prognostic and progression marker for GC.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  5 / 50646 MEDLINE  
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[PMID]: 29431926
[Au] Autor:Kalaev VN; Nechaeva MS
[Ti] Title:[The study of the frequency of buccal epithelium cells with nuclear in athletes in dependence on the place got in the competition].
[So] Source:Gig Sanit;95(10):992-7, 2016.
[Is] ISSN:0016-9900
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:Cytogenetic homeostasis ofathletes involved in hand-to-hand armyfighting, depending on the outcome of the fight and the level of aggressiveness has been studied. Status of the genetic apparatus in athletes was evaluated in buccal epithelium with the use of micronucleus test, which is widely usedfor the determination of the influence of various factors on the genetic stability of the organism. Psychological testing of athletes was executed with the use of Spielberger's State-Trait Anger Expression Inventory scale, Bass-Darky questionnaire for the diagnostics of aggression and hostile reactions, Eysenck Personality Questionnaire test for the evaluation ofpsychic conditions and method of U.P. Ilyin and P.A. Kovalev for the identification of the propensity to conflictness and aggressiveness (positive and negative) as the personal characteristics. The place taken by the athlete on the competition was shown to have an impact on the frequency of buccal epithelium cells with nuclear abnormalities (micronuclei, perinuclear vacuoles, notches, protrusions "tongue" and "broken egg"). Losers have nuclear aberrations more than winners. At that in athletes with higher aggressiveness and its attendant psychological characteristics the influence of the outcome of the competition on the number of cells with aberrations core is more pronounced.
[Mh] MeSH terms primary: Aggression
Athletic Performance
Martial Arts
Micronucleus Tests/methods
Mouth Mucosa/pathology
[Mh] MeSH terms secundary: Adolescent
Aggression/physiology
Aggression/psychology
Athletes/psychology
Athletic Performance/physiology
Athletic Performance/psychology
Cytogenetic Analysis/methods
Humans
Male
Martial Arts/physiology
Martial Arts/psychology
Psychological Tests
Statistics as Topic
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180213
[St] Status:MEDLINE

  6 / 50646 MEDLINE  
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[PMID]: 29431322
[Au] Autor:Shinkaruk EV; Agbalyan EV
[Ti] Title:[Cytogenetic status of the residents of the Gydansky Peninsula (Gydan)].
[So] Source:Gig Sanit;95(9):865-8, 2016.
[Is] ISSN:0016-9900
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:The relevance of the study on the Gydansky Peninsula lies in poor knowledge and inaccessibility of the territory, planned intensive industrial development of the Gydansky Peninsula, in 2011 there were received licenses for the exploration of license areas at the peninsula up to 2031. Industrial development will inevitably lead to certain environmental shifts, emission of the harmful substances into biosphere, the accumulation of anthropogenic pollutants in soil and water sources. The proposed development of the territory of the Peninsula Gydan sets the task of assessment of the impact of gas and oil production in conditions of the far North on health, as well indigenous persons as employees recruited to this of the region. One of the informative approaches to the assessment of population health is the assessment of the cytogenetic status with the use of noninvasive analysis of buccal epithelium. The aim of the study is to determine the cytogenetic status of the inhabitants of the village of Antipayuta of the Yamal-Nenets Autonomous Okrug for the assessment of the impact of environmental factors on the health of the population at the present stage of the industrial development of the territory. Samples of buccal epithelium of 81 alien and indigenous people of the Yamal-Nenets Autonomous district were the object of the investigation. There was performed the analysis of indices of cells of buccal epithelium of the residents living in the village in comparison with the control group. The analysis of samples was performed on a Nikon Eclipse E100 microscope. For the assessment of the cytogenetic status of the individual there was used the proposed by Sycheva L. P. (2012-Index of accumulation of cytogenetic damages (Iac). It is shown that the frequency of occurrence of micronucleus and nuclear protrusions does not exceed the performance of the control group. The index of accumulation of cytogenetic damage for the population of the village is 0.78±0.07% and corresponds to a low level. The analysis of indices of buccal epithelial cells of residents living in rural areas was performed in the comparison with the control group The prevalence rate of cells with micronuclei and protrusions were shown to account of 14.6% andfail to exceed indices in the control group. Accumulation index of cytogenetic damages for the village population is 0.78 ± 0.07 % and corresponds to the low level. The amount of cells with micronuclei and protrusions in the current study is by 14.6% lower than the average of the control group. The intensity of proliferative processes and apoptosis in the comparison groups occurs evenly.
[Mh] MeSH terms primary: Cytogenetic Analysis
Environmental Exposure
Industrial Development/trends
Public Health
Regional Health Planning/organization & administration
[Mh] MeSH terms secundary: Arctic Regions/epidemiology
Cytogenetic Analysis/methods
Cytogenetic Analysis/statistics & numerical data
Environmental Exposure/analysis
Environmental Exposure/prevention & control
Environmental Exposure/standards
Health Plan Implementation/methods
Health Plan Implementation/trends
Humans
Population Health/statistics & numerical data
Public Health/standards
Public Health/trends
Russia/epidemiology
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180213
[St] Status:MEDLINE

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[PMID]: 29305630
[Au] Autor:Ben Lakhal R; Ghedira H; Bellaaj H; Ben Youssef Y; Menif S; Manai Z; Bedoui M; Lakhal A; M'Sadek F; Elloumi M; Khélif A; Ben Romdhane N; Laatiri MA; Ben Othmen T; Meddeb B
[Ad] Address:Hematology Department, Aziza Othmana University Hospital, Tunis, Tunisia. raihane.benlakhal@gmail.com.
[Ti] Title:Chronic myeloid leukemia patients in Tunisia: epidemiology and outcome in the imatinib era (a multicentric experience).
[So] Source:Ann Hematol;97(4):597-604, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Data are limited in developing countries regarding the clinicopathologic features and response to therapy of chronic myeloid leukemia (CML) in the era of imatinib (IM). The objective of this study is to report on the clinicoepidemiologic features of CML in Tunisia, to evaluate the long-term outcome of patients in chronic (CP) or accelerated phase (AP) treated with IM 400 mg daily as frontline therapy, and to determine imatinib's efficacy and safety. From October 2002 to December 2014, 410 CML patients were treated with IM in six Tunisian departments of hematology. Response (hematologic, cytogenetic, and molecular responses) and outcome-overall survival (OS), event-free survival (EFS), and progression-free survival (PFS)-were evaluated. The following prognostic factors were analyzed for their impact on the European leukemia net (ELN) response, OS, EFS, and PFS at 5 years: age, sex, leukocyte count, Sokal score, European Treatment and Outcome Study (EUTOS) score, CML phase, time to starting IM, and impact of adverse events. The median age was 45 years (3-85 years). Two hundred ten (51.2%) patients were male. Splenomegaly was present in 322 of the 410 (79%). Additional cytogenetic abnormalities were encountered in 25 (6.3%) patients. At diagnosis, 379 (92.4%) patients were in CP, 31 (7.6%) were in AP. The Sokal risk was low in 87 (22.5%), intermediate in 138 (35.7%), and high in 164 patients (41.9%). The EUTOS risk was low in 217 (74%), and high in 77 (26%) patients. The rates of cumulative complete cytogenetic response (CCyR), major molecular response (MMR), and molecular response 4/5 log (MR4.5) in CP/AP-CML patients were 72, 68.4, and 46.4%, respectively. The median time to reach CCyR, MMR, and MR4.5 was 6 months (3-51), 18 months (3-72), and 24 months (3-100), respectively. According to the ELN criteria, optimal, suboptimal response, and failure were noted in 206 (51.8%), 61 (15.3%), and 125 (31.4%) patients, respectively. Five-year event-free survival (EFS), progression-free survival (PFS), and overall survival (OS) were 81, 90, and 90%, respectively. By multivariate analysis, AP, high EUTOS risk, and baseline WBC ≥ 150G/l remained independent predictive factors of non-optimal response to IM. The adverse events (AE) of IM were moderate and tolerable. With the caveats that the monitoring of the disease was not optimal, response rates were similar to those reported in previous studies. It is clear to us that improvements should be made in treatment of AP-CML and high Sokal risk group of CP-CML. The frontline use of second-generation tyrosine kinase inhibitor (TKI) is expected to improve the results of the first-line treatment of these high-risk Tunisian patients, but cost and accessibility of this therapy remain the problems in developing countries.
[Mh] MeSH terms primary: Antineoplastic Agents/therapeutic use
Imatinib Mesylate/therapeutic use
Leukemia, Myeloid, Accelerated Phase/drug therapy
Leukemia, Myeloid, Chronic-Phase/drug therapy
Protein Kinase Inhibitors/therapeutic use
[Mh] MeSH terms secundary: Adolescent
Adult
Aged
Aged, 80 and over
Antineoplastic Agents/adverse effects
Child
Child, Preschool
Female
Follow-Up Studies
Humans
Imatinib Mesylate/adverse effects
Leukemia, Myeloid, Accelerated Phase/diagnosis
Leukemia, Myeloid, Accelerated Phase/epidemiology
Leukemia, Myeloid, Accelerated Phase/pathology
Leukemia, Myeloid, Chronic-Phase/diagnosis
Leukemia, Myeloid, Chronic-Phase/epidemiology
Leukemia, Myeloid, Chronic-Phase/pathology
Male
Middle Aged
Practice Patterns, Physicians'
Prognosis
Protein Kinase Inhibitors/adverse effects
Retrospective Studies
Splenomegaly/etiology
Splenomegaly/pathology
Splenomegaly/prevention & control
Survival Analysis
Tumor Burden/drug effects
Tunisia/epidemiology
Young Adult
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Name of substance:0 (Antineoplastic Agents); 0 (Protein Kinase Inhibitors); 8A1O1M485B (Imatinib Mesylate)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180107
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-017-3224-2

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[PMID]: 29519618
[Au] Autor:Park SS; Kim HJ; Min KI; Min GJ; Jeon YW; Yoon JH; Yahng SA; Shin SH; Lee SE; Cho BS; Eom KS; Kim YJ; Lee S; Min CK; Cho SG; Kim DW; Lee JW; Min WS
[Ad] Address:Catholic Blood and Marrow Transplantation Center, Seoul St Mary's Hospital, The Catholic University of Korea, Seoul, Korea; Leukemia Research Institute, College of Medicine, The Catholic University of Korea, Seoul, Korea.
[Ti] Title:Prognostic Prediction Model for Second Allogeneic Stem-Cell Transplantation in Patients With Relapsed Acute Myeloid Leukemia: Single-Center Report.
[So] Source:Clin Lymphoma Myeloma Leuk;, 2018 Feb 17.
[Is] ISSN:2152-2669
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: To identify factors affecting survival outcomes and to develop a prognostic model for second allogeneic stem-cell transplantation (allo-SCT2) for relapsed acute myeloid leukemia (AML) after the first autologous or allogeneic stem-cell transplantation. PATIENTS AND METHODS: Seventy-eight consecutive adult AML patients who received allo-SCT2 were analyzed in this retrospective study. RESULTS: The 4-year overall survival (OS) rate was 28.7%. In multivariate analysis, poor cytogenetic risk at diagnosis, circulating blast ≥ 20% at relapse, duration from first transplantation to relapse < 9 months, and failure to achieve morphologic complete remission after allo-SCT2 were factors associated with poor OS. A prognostic model was developed with the following score system: intermediate and poor cytogenetic risk at diagnosis (0.5 and 1 point), peripheral blast ≥ 20% at relapse (1 point), duration from the first transplantation to relapse < 9 months (1 point), and failure to achieve morphologic complete remission after allo-SCT2 (1 point). The model identified 2 subgroups according to the 4-year OS rate: 51.3% in the low-risk group (score < 2) and 2.8% in the high-risk group (score ≥ 2) (P < .001). CONCLUSION: This prognostic model might be useful to make an appropriate decision for allo-SCT2 in relapsed AML after the first autologous or allogeneic stem-cell transplantation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  9 / 50646 MEDLINE  
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[PMID]: 29518182
[Au] Autor:Kasai F; Pereira JC; Kohara A; Ferguson-Smith MA
[Ad] Address:Japanese Collection of Research Bioresources (JCRB) Cell Bank, Laboratory of Cell Cultures, National Institutes of Biomedical Innovation, Health and Nutrition, Ibaraki 567-0085, Osaka, Japan.
[Ti] Title:Homologue-specific chromosome sequencing characterizes translocation junctions and permits allelic assignment.
[So] Source:DNA Res;, 2018 Mar 06.
[Is] ISSN:1756-1663
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Chromosome translocations can be detected by cytogenetic analysis, but it is hard to characterize the breakpoints at the sequence level. Chromosome sorting by flow cytometry produces flow karyotypes that enable the isolation of abnormal chromosomes and the generation of chromosome-specific DNA. In this study, a derivative chromosome t(9; 14) and its homologous normal chromosomes 9 and 14 from the Ishikawa 3-H-12 cell line were sorted to collect homologue-specific samples. Chromosome sequencing identified the breakpoint junction in the der(9) at 9p24.3 and 14q13.1 and uncovered the formation of a fusion gene, WASH1-NPAS3. Amplicon sequencing targeted for neighbouring genes at the fusion breakpoint revealed that the variant frequencies correlate with the allelic copy number. Sequencing of sorted chromosomes permits the assignment of allelic variants and can lead to the characterization of abnormal chromosomes. We show that allele-specific chromosome sequencing of homologues is a robust technique for distinguishing alleles and this provides an efficient approach for the comprehensive analysis of genomic changes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/dnares/dsy007

  10 / 50646 MEDLINE  
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[PMID]: 29517175
[Au] Autor:Xue D; Cao DH; Mu K; Lv Y; Yang J
[Ad] Address:Department of Cardiovascular Ultrasound, The First Hospital of China Medical University, Shenyang, China.
[Ti] Title:Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.
[So] Source:J Obstet Gynaecol Res;, 2018 Mar 08.
[Is] ISSN:1447-0756
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1111/jog.13617


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