细胞遗传学在爱德华兹综合征诊断中的贡献:约9例。

IF 0.4 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY
Fatima Ezzahra Aouni, Khawla Zerrouki, Fatimazahra Smaili, Anass Ayyad, Sahar Messaoudi, Abdeladim Babakhouya, Rim Amrani, Mariam Tajir
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引用次数: 0

摘要

简介:18三体是一种由多余18号染色体的存在所定义的体质染色体疾病。临床疑似诊断,经细胞遗传学分析证实。对患者家属进行遗传咨询很重要。本研究的目的是报告我们在Oujda穆罕默德六世大学医院医学遗传学部通过畸形学专业知识和细胞遗传学分析在18三体诊断和遗传咨询方面的经验。材料和方法:我们报告了一项为期四年(2018-2022)的回顾性描述性研究,对9例提示18三体的多畸形综合征患者进行了细胞遗传学分析。结果:患者诊断时的中位年龄为2天,男性居多。在我们的研究中,产妇出生时的平均年龄为40岁。只有一名患者有血缘关系。所有患者均具有典型的18三体表型。所有患者的出生后体质核型均为同质的18三体。在我们的研究中,只有1例患者在7个月时仍然存活,其他8例患者死亡,中位产后生存时间为5天。结论:通过本研究,我们强调医学遗传学家在临床和罕见染色体影响的细胞遗传学诊断方法的贡献,以便为家庭提供适当的遗传咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[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.

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来源期刊
Annales de biologie clinique
Annales de biologie clinique 医学-医学:研究与实验
CiteScore
0.80
自引率
20.00%
发文量
53
审稿时长
6-12 weeks
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.
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