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 corresp...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).展开更多
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 qualit...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 quality.Methods:In this study,359 embryos from 62 couples were screened for chromosomes 13,21,18,X,and Y by fluorescence insitu hybridization.For biopsy of blastomere,a laser was used to remove a significantly smaller portion of the zona pellucida.One blastomere was gently biopsied by an aspiration pipette through the hole.After biopsy,the embryo was immediately returned to the embryo scope until transfer.Embryo integrity and blastocyst formation were assessed on day 5.Results:Totally,282 embryos from 62 couples were evaluated.The chromosomes were normal in 199(70.57%)embryos and abnormal in 83(29.43%)embryos.There 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 status.Hence,the quality of embryos determined by morphological parameters is not an appropriate method for choosing embryos without these abnormalities.展开更多
<strong>Objective</strong><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><strong>:</strong...<strong>Objective</strong><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><strong>:</strong></span></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;"> To investigate the changes of hsMAD2 protein and gene expression levels during chromosome segregation of human embryos. </span><b><span style="font-family:Verdana;">Method</span></b></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">:</span></b></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;"> The embryos of spontaneous abortion were collected in our hospital from 2009 to 2013, the chromosomal numbers of the embryonic villi were subsequently detected by fluorescence in situ hybridization (FISH). The patients were then divided into the normal and abnormal groups based on the chromosome number. The hsMAD2 protein and gene expression levels in the villi tissues of the two embryo groups were detected by western blotting and qRT-PCR, respectively. The hsMAD2 protein and gene levels in the embryonic villus tissue of the patient were detected. </span><b><span style="font-family:Verdana;">Results</span></b></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">:</span></b></span></span><span><span><b><span style="font-family:""> </span></b></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">From 2009 to 2013, we collected 50 embryos from spontaneous abortion patients. The chromosome abnormality and no abnormality were 36 cases (abnormal number of 28 cases (56.0%) and chimerism in 8 cases (16.0%)) and 14 cases (28.0%), respectively.</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The expression of hsmad2 protein and its gene in the villi of spontaneously aborted embryo with chromosomal abnormality in the abnormal group was significantly higher than that in those without chromosomal abnormalities (0.88 ± 0.20 vs 0.61 ± 0.19, P < 0.05), (23.46 ± 0.07 vs 18.35 ± 0.10, P < 0.05).</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">Conclusion</span></b></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">:</span></b></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> Abnormal number of chromosomes is closely related to spontaneous abortion Linked, hsMAD2 factor has a card effect on the cell cycle, can block the mitotic process of cells, and play an important role in maintaining the normal separation and stability of chromosomes</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">.</span></span></span>展开更多
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 ...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 diagnosis.CASE 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 Iran.This 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 patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.展开更多
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 unbalance...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 content.Cryopreserved spermatozoa from six males were separated into nonapoptotic and apoptotic populations.We 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 patient.Compared to the nonapoptotic fraction,the apoptotic fraction statistically showed a higher number of spermatozoa with EPS,with DNA fragmentation,and with numerical chromosomal abnormalities.Compared 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 fraction.Conversely,we observed statistically significant higher rates of these three parameters in the apoptotic fraction.MACS may help to select spermatozoa with lower rates of DNA fragmentation and unbalanced chromosome content in men with abnormal rates of sperm DNA fragmentation.展开更多
To investigate the association of specific ultrasonography features identified during the diagnosis of early pregnancy loss(EPL)and abnormal karyotype.This was a systematic review and meta-analysis conducted in accord...To investigate the association of specific ultrasonography features identified during the diagnosis of early pregnancy loss(EPL)and abnormal karyotype.This was a systematic review and meta-analysis conducted in accordance with PRISMA criteria.We searched PubMed,Cochrane and Ovid MEDLINE from 1977 to Jan 2017 to identify the articles that described EPL with karyotype and ultrasonography features.Risk differences were pooled to estimate the chromosomal abnormality rates in ultrasonography features,including pre-embryonic,enlarged yolk sac(YS),short crown rump length(CRL),small gestational sac(GS),symmetrical arrested growth embryo,or gestational sac with only a YS.Quality assessment of included studies was performed using Strengthening the Reporting of Observational Studies in Epidemiology(STROBE)checklists for Observational Studies(2007 version).Thirteen studies were included in the meta-analysis.Chromosomal abnormality was more likely to occur in embryonic EPL and enlarged YS.On the other hand,short CRL,small GS,symmetrical arrested growth embryo,or gestational sac with only a YS,were not associated with an increased risk of fetal chromosomal abnormality.Ultrasonography features at the time of diagnosis of EPL have limited predictive value of fetal chromosomal abnormality.展开更多
Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental retardation.However,the double trisomy 48,XXX,+18 is a rare chromosome abnormality.Methods:Case report and ...Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental retardation.However,the double trisomy 48,XXX,+18 is a rare chromosome abnormality.Methods:Case report and literature review.Results:A 7-hour-old girl presented to our unit because of poor response after birth.She 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 liver.This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18.The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed.Conclusion: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.展开更多
Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures.There are many known causes of epilepsy,including genetic factors,brain damage,and environmental factors,but the pathoge...Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures.There are many known causes of epilepsy,including genetic factors,brain damage,and environmental factors,but the pathogenic mechanisms are largely unknown.Numerous factors,including genetic mutations,brain damage,and environmental insults,have been implicated in the etiology of epilepsy,but the cause for individual epilepsy patients is often unknown.Research on inherited forms of epilepsy has identified mutations in genes encoding ion channels or neurotransmitter receptors.Family-based studies of inherited forms of epilepsy have previously identified mutations in genes encoding ion channels and neurotransmitter receptors.With a deepening understanding of the underlying cellular pathways,researchers have identified epilepsy candidate genes that function in synaptic vesicle trafficking,chromatin remodeling,transcription,and mammalian target of rapamycin(mTOR)signaling.More recently,genes involved in synaptic vesicle transport,chromatin remodeling,and transcription,as well as the mTOR signaling pathway,have also been implicated in inherited forms of the disorder.In addition,recent advances in DNA sequencing and genomic technologies have identified chromosomal copy number variants and epigenetic modifications as possible contributing factors in inherited epilepsy.In this review,we focus on the established and potential contributions of genes,chromosomal abnormalities,and epigenetic modifications to the development of epilepsy.展开更多
With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,a...With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,and improvement of population quality.Congenital heart disease is a common birth defect and is the most serious among all birth defect diseases and seriously endangers the physical and mental health of children in China.In this article,we review the latest research progress of congenital heart disease in the field of reproduction.展开更多
文摘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).
文摘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 quality.Methods:In this study,359 embryos from 62 couples were screened for chromosomes 13,21,18,X,and Y by fluorescence insitu hybridization.For biopsy of blastomere,a laser was used to remove a significantly smaller portion of the zona pellucida.One blastomere was gently biopsied by an aspiration pipette through the hole.After biopsy,the embryo was immediately returned to the embryo scope until transfer.Embryo integrity and blastocyst formation were assessed on day 5.Results:Totally,282 embryos from 62 couples were evaluated.The chromosomes were normal in 199(70.57%)embryos and abnormal in 83(29.43%)embryos.There 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 status.Hence,the quality of embryos determined by morphological parameters is not an appropriate method for choosing embryos without these abnormalities.
文摘<strong>Objective</strong><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><strong>:</strong></span></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;"> To investigate the changes of hsMAD2 protein and gene expression levels during chromosome segregation of human embryos. </span><b><span style="font-family:Verdana;">Method</span></b></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">:</span></b></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;"> The embryos of spontaneous abortion were collected in our hospital from 2009 to 2013, the chromosomal numbers of the embryonic villi were subsequently detected by fluorescence in situ hybridization (FISH). The patients were then divided into the normal and abnormal groups based on the chromosome number. The hsMAD2 protein and gene expression levels in the villi tissues of the two embryo groups were detected by western blotting and qRT-PCR, respectively. The hsMAD2 protein and gene levels in the embryonic villus tissue of the patient were detected. </span><b><span style="font-family:Verdana;">Results</span></b></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">:</span></b></span></span><span><span><b><span style="font-family:""> </span></b></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">From 2009 to 2013, we collected 50 embryos from spontaneous abortion patients. The chromosome abnormality and no abnormality were 36 cases (abnormal number of 28 cases (56.0%) and chimerism in 8 cases (16.0%)) and 14 cases (28.0%), respectively.</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The expression of hsmad2 protein and its gene in the villi of spontaneously aborted embryo with chromosomal abnormality in the abnormal group was significantly higher than that in those without chromosomal abnormalities (0.88 ± 0.20 vs 0.61 ± 0.19, P < 0.05), (23.46 ± 0.07 vs 18.35 ± 0.10, P < 0.05).</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">Conclusion</span></b></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><b><span style="font-family:Verdana;">:</span></b></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> Abnormal number of chromosomes is closely related to spontaneous abortion Linked, hsMAD2 factor has a card effect on the cell cycle, can block the mitotic process of cells, and play an important role in maintaining the normal separation and stability of chromosomes</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">.</span></span></span>
文摘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 diagnosis.CASE 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 Iran.This 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 patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.
文摘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 content.Cryopreserved spermatozoa from six males were separated into nonapoptotic and apoptotic populations.We 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 patient.Compared to the nonapoptotic fraction,the apoptotic fraction statistically showed a higher number of spermatozoa with EPS,with DNA fragmentation,and with numerical chromosomal abnormalities.Compared 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 fraction.Conversely,we observed statistically significant higher rates of these three parameters in the apoptotic fraction.MACS may help to select spermatozoa with lower rates of DNA fragmentation and unbalanced chromosome content in men with abnormal rates of sperm DNA fragmentation.
文摘To investigate the association of specific ultrasonography features identified during the diagnosis of early pregnancy loss(EPL)and abnormal karyotype.This was a systematic review and meta-analysis conducted in accordance with PRISMA criteria.We searched PubMed,Cochrane and Ovid MEDLINE from 1977 to Jan 2017 to identify the articles that described EPL with karyotype and ultrasonography features.Risk differences were pooled to estimate the chromosomal abnormality rates in ultrasonography features,including pre-embryonic,enlarged yolk sac(YS),short crown rump length(CRL),small gestational sac(GS),symmetrical arrested growth embryo,or gestational sac with only a YS.Quality assessment of included studies was performed using Strengthening the Reporting of Observational Studies in Epidemiology(STROBE)checklists for Observational Studies(2007 version).Thirteen studies were included in the meta-analysis.Chromosomal abnormality was more likely to occur in embryonic EPL and enlarged YS.On the other hand,short CRL,small GS,symmetrical arrested growth embryo,or gestational sac with only a YS,were not associated with an increased risk of fetal chromosomal abnormality.Ultrasonography features at the time of diagnosis of EPL have limited predictive value of fetal chromosomal abnormality.
基金supported by Zhejiang Provincial Natural Science Foundation of China(LR13H090002)the National Natural Science Foundation of China(81170787 and 81371215)
文摘Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental retardation.However,the double trisomy 48,XXX,+18 is a rare chromosome abnormality.Methods:Case report and literature review.Results:A 7-hour-old girl presented to our unit because of poor response after birth.She 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 liver.This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18.The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed.Conclusion: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.
文摘Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures.There are many known causes of epilepsy,including genetic factors,brain damage,and environmental factors,but the pathogenic mechanisms are largely unknown.Numerous factors,including genetic mutations,brain damage,and environmental insults,have been implicated in the etiology of epilepsy,but the cause for individual epilepsy patients is often unknown.Research on inherited forms of epilepsy has identified mutations in genes encoding ion channels or neurotransmitter receptors.Family-based studies of inherited forms of epilepsy have previously identified mutations in genes encoding ion channels and neurotransmitter receptors.With a deepening understanding of the underlying cellular pathways,researchers have identified epilepsy candidate genes that function in synaptic vesicle trafficking,chromatin remodeling,transcription,and mammalian target of rapamycin(mTOR)signaling.More recently,genes involved in synaptic vesicle transport,chromatin remodeling,and transcription,as well as the mTOR signaling pathway,have also been implicated in inherited forms of the disorder.In addition,recent advances in DNA sequencing and genomic technologies have identified chromosomal copy number variants and epigenetic modifications as possible contributing factors in inherited epilepsy.In this review,we focus on the established and potential contributions of genes,chromosomal abnormalities,and epigenetic modifications to the development of epilepsy.
基金supported by the National Key Research and Development Program of China(No.2016YFC1000500)by the National Natural Science Foundation of China(No.81570282,81570283).
文摘With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,and improvement of population quality.Congenital heart disease is a common birth defect and is the most serious among all birth defect diseases and seriously endangers the physical and mental health of children in China.In this article,we review the latest research progress of congenital heart disease in the field of reproduction.
