普拉德-威利综合征伴有非典型 15q 缺失,原因是 13 号和 15 号染色体之间的不平衡易位

N. Shilova, M. Minzhenkova, ZhG Markova, G. N. Matyschenko
{"title":"普拉德-威利综合征伴有非典型 15q 缺失,原因是 13 号和 15 号染色体之间的不平衡易位","authors":"N. Shilova, M. Minzhenkova, ZhG Markova, G. N. Matyschenko","doi":"10.21508/1027-4065-2024-69-3-80-85","DOIUrl":null,"url":null,"abstract":"Prader-Willi syndrome (PWS) (OMIM #176270) is a neurobehavioral disorder that is caused by various genetic mechanisms. These mechanisms include a deletion in the q11.2–q13 region of the paternal chromosome 15, maternal uniparental disomy of chromosome 15, or a pathology of gene imprinting in the proximal part of the long arm of chromosome 15. The most common cause of PWS is a 15q11.2–q13 deletion of approximately 6 Mb, which typically occurs spontaneously. However, there have been rare cases of 15q11.2–q13 deletion associated with unbalanced translocations involving chromosome 15. In order to accurately diagnose PWS and determine the mechanisms behind the chromosomal imbalance, various diagnostic methods such as conventional cytogenetics, fluorescence in situ hybridization (FISH) or microarray comparative genomic hybridization are necessary.The aim. To determine the origin of an atypical 15q deletion in a patient with Prader–Willi syndrome.Methods. Conventional cytogenetic study, FISH with DNA probes for chromosomes 13 and 15, and chromosomal microarray analysis.Results. Showed that the patient had an 8.7 Mb deletion in the 15q11.2–q13.3 region, which was found to be a consequence of a meiotic malsegregation of a reciprocal translocation between chromosomes 13 and 15 in the patient’s father. The scope of the results is in informing medical genetic counseling of patients and families with a hereditary disease.Conclusion. A comprehensive cytogenomic approach in diagnosis of genetic variations associated with Prader–Willi syndrome allows for accurate determination of copy number variations and provides information on the structure and origin of genomic imbalance. This information can be valuable for guiding medical genetic counseling and making decisions regarding future prenatal or preimplantation diagnoses.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"59 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prader–Willi syndrome with atypical 15q deletion due to an unbalanced translocation between chromosomes 13 and 15\",\"authors\":\"N. Shilova, M. Minzhenkova, ZhG Markova, G. N. Matyschenko\",\"doi\":\"10.21508/1027-4065-2024-69-3-80-85\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Prader-Willi syndrome (PWS) (OMIM #176270) is a neurobehavioral disorder that is caused by various genetic mechanisms. These mechanisms include a deletion in the q11.2–q13 region of the paternal chromosome 15, maternal uniparental disomy of chromosome 15, or a pathology of gene imprinting in the proximal part of the long arm of chromosome 15. The most common cause of PWS is a 15q11.2–q13 deletion of approximately 6 Mb, which typically occurs spontaneously. However, there have been rare cases of 15q11.2–q13 deletion associated with unbalanced translocations involving chromosome 15. In order to accurately diagnose PWS and determine the mechanisms behind the chromosomal imbalance, various diagnostic methods such as conventional cytogenetics, fluorescence in situ hybridization (FISH) or microarray comparative genomic hybridization are necessary.The aim. To determine the origin of an atypical 15q deletion in a patient with Prader–Willi syndrome.Methods. Conventional cytogenetic study, FISH with DNA probes for chromosomes 13 and 15, and chromosomal microarray analysis.Results. Showed that the patient had an 8.7 Mb deletion in the 15q11.2–q13.3 region, which was found to be a consequence of a meiotic malsegregation of a reciprocal translocation between chromosomes 13 and 15 in the patient’s father. The scope of the results is in informing medical genetic counseling of patients and families with a hereditary disease.Conclusion. A comprehensive cytogenomic approach in diagnosis of genetic variations associated with Prader–Willi syndrome allows for accurate determination of copy number variations and provides information on the structure and origin of genomic imbalance. This information can be valuable for guiding medical genetic counseling and making decisions regarding future prenatal or preimplantation diagnoses.\",\"PeriodicalId\":21550,\"journal\":{\"name\":\"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)\",\"volume\":\"59 4\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21508/1027-4065-2024-69-3-80-85\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21508/1027-4065-2024-69-3-80-85","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

普拉德-威利综合征(Prader-Willi syndrome,PWS)(OMIM #176270)是一种由多种遗传机制引起的神经行为障碍。这些机制包括父方 15 号染色体 q11.2-q13 区缺失、母方 15 号染色体单亲裂殖或 15 号染色体长臂近端基因印记病变。PWS 最常见的病因是 15q11.2-q13 约 6 Mb 的缺失,通常会自发发生。不过,也有罕见的 15q11.2-q13 缺失病例与涉及 15 号染色体的不平衡易位有关。为了准确诊断 PWS 并确定染色体失衡背后的机制,有必要采用常规细胞遗传学、荧光原位杂交(FISH)或芯片比较基因组杂交等各种诊断方法。确定普拉德-威利综合征患者非典型 15q 缺失的来源。常规细胞遗传学研究、使用 13 号和 15 号染色体 DNA 探针进行 FISH 分析以及染色体芯片分析。结果显示,患者的 15q11.2-q13.3 区有一个 8.7 Mb 的缺失,这是患者父亲的 13 号染色体和 15 号染色体之间的互易易位减数分裂错位的结果。该结果可为遗传病患者和家庭的遗传咨询提供参考。在诊断与普拉德-威利综合征相关的基因变异时,采用全面的细胞基因组学方法可准确确定拷贝数变异,并提供有关基因组失衡的结构和起源的信息。这些信息对于指导医学遗传咨询和未来产前或植入前诊断决策非常有价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prader–Willi syndrome with atypical 15q deletion due to an unbalanced translocation between chromosomes 13 and 15
Prader-Willi syndrome (PWS) (OMIM #176270) is a neurobehavioral disorder that is caused by various genetic mechanisms. These mechanisms include a deletion in the q11.2–q13 region of the paternal chromosome 15, maternal uniparental disomy of chromosome 15, or a pathology of gene imprinting in the proximal part of the long arm of chromosome 15. The most common cause of PWS is a 15q11.2–q13 deletion of approximately 6 Mb, which typically occurs spontaneously. However, there have been rare cases of 15q11.2–q13 deletion associated with unbalanced translocations involving chromosome 15. In order to accurately diagnose PWS and determine the mechanisms behind the chromosomal imbalance, various diagnostic methods such as conventional cytogenetics, fluorescence in situ hybridization (FISH) or microarray comparative genomic hybridization are necessary.The aim. To determine the origin of an atypical 15q deletion in a patient with Prader–Willi syndrome.Methods. Conventional cytogenetic study, FISH with DNA probes for chromosomes 13 and 15, and chromosomal microarray analysis.Results. Showed that the patient had an 8.7 Mb deletion in the 15q11.2–q13.3 region, which was found to be a consequence of a meiotic malsegregation of a reciprocal translocation between chromosomes 13 and 15 in the patient’s father. The scope of the results is in informing medical genetic counseling of patients and families with a hereditary disease.Conclusion. A comprehensive cytogenomic approach in diagnosis of genetic variations associated with Prader–Willi syndrome allows for accurate determination of copy number variations and provides information on the structure and origin of genomic imbalance. This information can be valuable for guiding medical genetic counseling and making decisions regarding future prenatal or preimplantation diagnoses.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信