检索结果-南通市图书馆

Correlation between Reasons for Prescription and Karyotype Results in Patients Referred for Suspected chromosomal abnormalities

引用

Open Journal of Genetics 2023年第2期13卷 97-103页

作者： Zhou Patricia Deh Malika Joane Astrid Dieth Quidana Désirée Coulibaly Mimbra Olivia Annick Bouatinin Bi You Etienne Bazago Goulai Abou Joël Landry Okon Brahima Doukouré Mohenou Isidore Jean-Marie Diomandé Gnangoran Victor Yao Laboratory of Histology-Embryology-Cytogenetics Training and Research Unit-Medical Sciences Félix Houphou&eumlt-Boigny University Abidjan C&ocircte d’Ivoire Laboratory of Pathologycal Anatomy and Cytology Training and Research Unit-Medical Sciences Félix Houphou&eumlt-Boigny University Abidjan C&ocircte d’Ivoire Laboratory of Clinical Cytology and Reproductive Biology Training and Research Unit-Medical Sciences Alassane Ouattara University Bouaké C&ocircte d’Ivoire

Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).

关键词： Diagnosis Reasons for Prescription Karyotype chromosomal abnormalities

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

MACS-annexin V cell sorting of semen samples with high TUNEL values decreases the concentration of cells with abnormal chromosomal content:a pilot study

引用

Asian Journal of Andrology 2022年第5期24卷 445-450页

作者： Sahar El Fekih Nadia Gueganic Corinne Tous Habib Ben Ali Mounir Ajina Nathalie Douet-Guilbert Hortense Drapier Damien Beauvillard Frédéric Morel Aurore Perrin University of Brest InsermUMR U1078Faculty of Medicine and Health SciencesBrest 29238France Laboratory of Human Cytogenetics Molecular Genetics and Reproductive BiologyFarhat Hached University HospitalSousse 4031Tunisia Departement of Medical Genetics and Reproductive Biology Brest University Regional HospitalBrest 29609France Department of Reproductive Medicine Farhat Hached Teaching HospitalSousse 4031Tunisia

We question whether,in men with an abnormal rate of sperm DNA fragmentation,the magnetic-activated cell sorting(MACS)could select spermatozoa with lower rates of DNA fragmentation as well as spermatozoa with unbalanced chromosome *** spermatozoa from six males were separated into nonapoptotic and apoptotic *** determined the percentages of spermatozoa with(i)externalization of phosphatidylserine(EPS)by annexin V-Fluorescein isothiocyanate(FITC)labeling,(ii)DNA fragmentation by TdT-mediated-dUTP nick-end labeling(TUNEL),and(iii)numerical abnormalities for chromosomes X,Y,13,18,and 21 by fluorescence in situ hybridization(FISH),on the whole ejaculate and selected spermatozoa in the same *** to the nonapoptotic fraction,the apoptotic fraction statistically showed a higher number of spermatozoa with EPS,with DNA fragmentation,and with numerical chromosomal *** to the whole ejaculate,we found a significant decrease in the percentage of spermatozoa with EPS and decrease tendencies of the DNA fragmentation rate and the sum of disomy levels in the nonapoptotic ***,we observed statistically significant higher rates of these three parameters in the apoptotic *** may help to select spermatozoa with lower rates of DNA fragmentation and unbalanced chromosome content in men with abnormal rates of sperm DNA fragmentation.

关键词： chromosomal abnormalities DNA fragmentation externalization of phosphatidylserine magnetic-activated cell separation spermatozoa

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Embryo quality and chromosomal abnormality in embryos from couples undergoing assisted reproductive technology using preimplantation genetic screening

引用

Asian pacific Journal of Reproduction 2023年第1期12卷 16-22页

作者： Mina Niusha Seyed Ali Rahmani Leila Kohan Ladan Sadeghi Mohammad Nouri Hamid Reza Nejabati Department of Biology Arsanjan BranchIslamic Azad UniversityArsanjanIran Department of Medical Genetics Tabriz University of Medical SciencesTabrizIran Department of Reproductive Biology Faculty of Advanced Medical SciencesTabriz University of Medical Sciences TabrizIran Department of Biochemistry and Clinical Laboratories Faculty of MedicineTabriz University of Medical SciencesTabrizIran

Objective:To detect common chromosomal aneuploidy variations in embryos from couples undergoing assisted reproductive technology and preimplantation genetic screening and their possible associations with embryo ***:In this study,359 embryos from 62 couples were screened for chromosomes 13,21,18,X,and Y by fluorescence insitu *** biopsy of blastomere,a laser was used to remove a significantly smaller portion of the zona *** blastomere was gently biopsied by an aspiration pipette through the *** biopsy,the embryo was immediately returned to the embryo scope until *** integrity and blastocyst formation were assessed on day ***:Totally,282 embryos from 62 couples were *** chromosomes were normal in 199(70.57%)embryos and abnormal in 83(29.43%)*** was no significant association between the quality of embryos and numerical chromosomal abnormality(P=0.67).Conclusions:Embryo quality is not significantly correlated with its genetic ***,the quality of embryos determined by morphological parameters is not an appropriate method for choosing embryos without these abnormalities.

关键词： Assisted reproductive technology Preimplantation genetic screening Aneuploidy Fluorescence insitu hybridization chromosomal abnormalities Embryo quality Blastomere Blastocyst

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：