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第七届生命科学联合学术大会

作者： Xin-ping Chen Wei-hua Xu Wang He Li-qiang Zhao Hu-ming Gong An-qin Chen Hai-yan Huang Zhi-chao Ma Sheng-miao Fu Department of Central Laboratory Hainan Province People`s Hospital Hainan Provincial Key Laboratory for Cell and Molecular Genetic Translational Medicine Department of Obstetrics Hainan Province People`s Hospital Hainan University

Explore the variation of hs MAD2 protein and gene expression level in the chromosome segregation of human *** 50 spontaneously aborted embryos treated in our hospital as research objects,detect the embryo villi chromosomal numbers of the patients by *** the patients into normal group and abnormal group based on the chromosome *** the hs MAD2 protein and gene expression level in villi tissues of the two patient embryos groups by western blotting and q PCR *** showed that(1)the two patient groups are comparable because no statistical difference(P>0.05)existed in their general conditions,such as gestational age,gravidity and gestational week.(2)28 embryos with chromosome abnormalities are detected in embryos of 50 patients with spontaneous abortion,accounting for 56%(28/50).8chimeras are detected in them,accounting for 16%.(3)The hs MAD2 protein level in villi of abnormal group embryos is(0.88±0.20),and its gene level is(23.46±0.07).Compared with the corresponding values(0.61±0.19)and(18.35±0.10)of normal group,the statistical difference is(Pchromosome numerical abnormality is closely associated with the spontaneous abortion.(2)the hs MAD2 factor has a checkpoint effect on cell cycle.(3)Its retardation effect on the mitotic cell division process plays an important role in maintaining normal and steady chromosome segregation.

关键词： spontaneous abortion embryo villi chromosome abnormality hsMAD2

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Double trisomy 48,XXX,+18 with multiple dysmorphic features

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World Journal of Pediatrics 2015年第1期11卷 83-88页

作者： Zi-Yan Jiang Xiao-Hui Wu Chao-Chun Zou Department of Pediatrics Children's Hospital Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of Education

Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental ***,the double trisomy 48,XXX,+18 is a rare chromosome ***:Case report and literature ***:A 7-hour-old girl presented to our unit because of poor response after *** presented with multiple dysmorphic features,including small for gestational age infant,flat nasal bridge,widely-spaced eyes,the left thumb deformities,flat facial profile,raised sternum,ventricular septal defect,the third lateral brain ventricle enlargement,and small *** case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+*** literature on 16 fetuses or infants with the 48,XXX,+18 were also ***:These data suggested that in patients with clinical features similar to trisomy 18,especially with anomalies of the ears and/or reproductive malformations,double trisomy(48,XXX,+18)should be considered and karyotyping should be performed although it is a rare disease.

关键词： 48,XXX,+18 chromosome abnormality double trisomy multiple dysmorphic features

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Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

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Journal of Zhejiang University Science 2004年第10期5卷 1249-1254页

作者：叶英辉徐晨明金帆钱羽力 DepartmentofReproductiveEndocrinology AffiliatedWomen＇sHospitalCollegeofMedicineZhejiangUniversityHangzhou310006China

Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

关键词： Preimplantation genetic diagnosis Fluorescence in-situ Hybridization (FISH) chromosome abnormality

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Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities

Reproductive outcomes in recurrent pregnancy loss associated...

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第十二次全国医学遗传学学术会议

作者： Yuan Dong Lei-Lei Li Rui-Xue Wang Xiao-Wei Yu Xin Yu Rui-Zhi Liu Center for Reproductive Medicine Center for Prenatal DiagnosisFirst HospitalJilin University Department of Cell Biology Norman Bethune College of Medicine Jilin University

Objective:To compare the subsequent reproductive outcomes in couples with a history of recurrent pregnancy loss(RPL) associated with and without chromosome abnormalities. Methods:A retrospective cohort and case-control study were *** karyotype analysis was performed on 2720 couples with RPL using standard GTG-banding,C-banding and *** means of a questionnaire,the clinical features and detailed obstetric history were *** reproductive outcomes were recorded through telephone interviews for at least 12 months after chromosome *** carriers’ family members were recalled back to be interviewed about reproductive history and performed karyotype ***:Among the 2720 RPL couples,there were 137 carrier couples with chromosomal abnormalities(5.04%, 137/2720),including 74 cases of structural chromosome rearrangements(2.72%),55 cases of polymorphisms(2.02%) and *** the 339 participant couples,the delivery rate in normal chromosome group was slightly higher than all chromosomal abnormality group(56.7%vs 51.3%, P=0.357);the miscarriage and unpregnancy rate were a little lower(11.9%vs 13.3%,P=0.729;31.5%vs 35.4%,P=0.464),although the differences were not statistically *** types of chromosome abnormality groups were also followed by similar subsequent reproductive outcomes(P>0.05).Through the pedigree analysis,chromosomal abnormalities of 17 carriers were inherited from one of their parents,another one was de novo and inherited from his mother ***,most of their parents did not have the same history of ***: Couples with RPL associated with parental chromosomal abnormalities do not have significantly lower live birth rate than non-carrier *** karyotype analysis might not be a good predictor of the subsequent reproductive outcomes.

关键词： chromosome rearrangement chromosome abnormality Recurrent pregnancy loss Miscarriage Polymorphism Stillbirth

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Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome:A case report

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World Journal of Medical Genetics 2023年第1期11卷 1-7页

作者： Sara Esmaeili Cory J Xian UniSA Clinical and Health Sciences University of South AustraliaAdelaide 5001SAAustralia

BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and *** SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from *** patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this ***,this patient seems to have mild *** This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.

关键词： Tetrasomy 18p Phenotypic features Clinical features chromosome abnormality Cytogenetic analysis Case report

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