{"title":"细胞遗传学在爱德华兹综合征诊断中的贡献:约9例。","authors":"Fatima Ezzahra Aouni, Khawla Zerrouki, Fatimazahra Smaili, Anass Ayyad, Sahar Messaoudi, Abdeladim Babakhouya, Rim Amrani, Mariam Tajir","doi":"10.1684/abc.2023.1816","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Trisomy 18 is a constitutional chromosomal disorder defined by the presence of a supernumerary chromosome 18. The diagnosis is suspected clinically and confirmed by cytogenetic analysis. Genetic counseling for patients' families is important. The objective of this study is to report our experience in Medical Genetics Department at the Mohammed VI University Hospital of Oujda in the diagnosis and genetic counseling of trisomy 18 through dysmorphological expertise and cytogenetic analysis.</p><p><strong>Material and methods: </strong>We report a retrospective descriptive study over a period of four years (2018-2022) of nine patients with polymalformative syndrome suggestive of trisomy 18 who underwent cytogenetic analysis.</p><p><strong>Results: </strong>The median age of patients at diagnosis was 2 days with a male predominance. The mean maternal age at birth of the patients in our series was 40 years. Consanguinity was found in only one patient. All patients had a typical phenotype of trisomy 18. The postnatal constitutional karyotype showed a homogeneous trisomy 18 in all patients. In our series, only one patient is still alive at the age of 7 months, the other 8 patients died with a median postnatal survival of 5 days.</p><p><strong>Conclusion: </strong>We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases].\",\"authors\":\"Fatima Ezzahra Aouni, Khawla Zerrouki, Fatimazahra Smaili, Anass Ayyad, Sahar Messaoudi, Abdeladim Babakhouya, Rim Amrani, Mariam Tajir\",\"doi\":\"10.1684/abc.2023.1816\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Trisomy 18 is a constitutional chromosomal disorder defined by the presence of a supernumerary chromosome 18. The diagnosis is suspected clinically and confirmed by cytogenetic analysis. Genetic counseling for patients' families is important. The objective of this study is to report our experience in Medical Genetics Department at the Mohammed VI University Hospital of Oujda in the diagnosis and genetic counseling of trisomy 18 through dysmorphological expertise and cytogenetic analysis.</p><p><strong>Material and methods: </strong>We report a retrospective descriptive study over a period of four years (2018-2022) of nine patients with polymalformative syndrome suggestive of trisomy 18 who underwent cytogenetic analysis.</p><p><strong>Results: </strong>The median age of patients at diagnosis was 2 days with a male predominance. The mean maternal age at birth of the patients in our series was 40 years. Consanguinity was found in only one patient. All patients had a typical phenotype of trisomy 18. The postnatal constitutional karyotype showed a homogeneous trisomy 18 in all patients. In our series, only one patient is still alive at the age of 7 months, the other 8 patients died with a median postnatal survival of 5 days.</p><p><strong>Conclusion: </strong>We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.</p>\",\"PeriodicalId\":7892,\"journal\":{\"name\":\"Annales de biologie clinique\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2023-07-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de biologie clinique\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1684/abc.2023.1816\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de biologie clinique","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1684/abc.2023.1816","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
[Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases].
Introduction: Trisomy 18 is a constitutional chromosomal disorder defined by the presence of a supernumerary chromosome 18. The diagnosis is suspected clinically and confirmed by cytogenetic analysis. Genetic counseling for patients' families is important. The objective of this study is to report our experience in Medical Genetics Department at the Mohammed VI University Hospital of Oujda in the diagnosis and genetic counseling of trisomy 18 through dysmorphological expertise and cytogenetic analysis.
Material and methods: We report a retrospective descriptive study over a period of four years (2018-2022) of nine patients with polymalformative syndrome suggestive of trisomy 18 who underwent cytogenetic analysis.
Results: The median age of patients at diagnosis was 2 days with a male predominance. The mean maternal age at birth of the patients in our series was 40 years. Consanguinity was found in only one patient. All patients had a typical phenotype of trisomy 18. The postnatal constitutional karyotype showed a homogeneous trisomy 18 in all patients. In our series, only one patient is still alive at the age of 7 months, the other 8 patients died with a median postnatal survival of 5 days.
Conclusion: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.
期刊介绍:
Multidisciplinary information with direct relevance to everyday practice
Annales de Biologie Clinique, the official journal of the French Society of Clinical Biology (SFBC), supports biologists in areas including continuing education, laboratory accreditation and technique validation.
With original articles, abstracts and accounts of everyday practice, the journal provides details of advances in knowledge, techniques and equipment, as well as a forum for discussion open to the entire community.