45、X/46、X、idic(Y)核型3例的FISH和PCR分析:临床和病理谱

Francisco Álvarez-Nava, Marisol Soto, María C Martínez, Minolfa Prieto, Zunilde Álvarez
{"title":"45、X/46、X、idic(Y)核型3例的FISH和PCR分析:临床和病理谱","authors":"Francisco Álvarez-Nava,&nbsp;Marisol Soto,&nbsp;María C Martínez,&nbsp;Minolfa Prieto,&nbsp;Zunilde Álvarez","doi":"10.1016/S0003-3995(03)00016-9","DOIUrl":null,"url":null,"abstract":"<div><p><strong><em>Objective. –</em></strong> To delineate the phenotypic spectrum (clinical and gonadal features) from patients with a 45,X/46,X,mar(Y) karyotype based upon of their clinical, histological, cytogenetic and molecular evaluation.</p><p><strong><em>Subjects. –</em></strong> Three patients with a 45,X/46,X,mar(Y) karyotype.</p><p><strong><em>Methods. –</em></strong> Clinical assessment, karyotyping, endocrine evaluation, FISH and PCR analyses of several Y-chromosome loci and direct sequencing of the SRY gene.</p><p><strong><em>Results. –</em></strong> The patients, two males and one female had varying degrees of impairment of sexual differentiation, with or without testis formation. One patient (reared as female and aged 17 years) had Turner syndrome with bilateral streak gonads. The second patient (2.4 years old) had ambiguous genitalia and presented a dysgenetic testis with a contralateral streak gonad. A third patient (26 years old) had bilateral dysgenetic testes (dysgenetic male pseudohermaphroditism). The ratio of 45,X vs. 46,X,+mar(Y) cells differed between patients and between different tissues. In each case the marker sexual chromosome was identified as a rearranged Y-chromosome (idic(Y)) using FISH and PCR analyses. In all cases the SRY gene was present in all tissues studied. No mutations were identified in this gene in any of the patients.</p><p><strong><em>Conclusions. –</em></strong> The extent of male or female differentiation in these patients depends in part on the prevalence, time occurrence, and distribution of the 45,X cell line.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 443-448"},"PeriodicalIF":0.0000,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00016-9","citationCount":"31","resultStr":"{\"title\":\"FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum\",\"authors\":\"Francisco Álvarez-Nava,&nbsp;Marisol Soto,&nbsp;María C Martínez,&nbsp;Minolfa Prieto,&nbsp;Zunilde Álvarez\",\"doi\":\"10.1016/S0003-3995(03)00016-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><strong><em>Objective. –</em></strong> To delineate the phenotypic spectrum (clinical and gonadal features) from patients with a 45,X/46,X,mar(Y) karyotype based upon of their clinical, histological, cytogenetic and molecular evaluation.</p><p><strong><em>Subjects. –</em></strong> Three patients with a 45,X/46,X,mar(Y) karyotype.</p><p><strong><em>Methods. –</em></strong> Clinical assessment, karyotyping, endocrine evaluation, FISH and PCR analyses of several Y-chromosome loci and direct sequencing of the SRY gene.</p><p><strong><em>Results. –</em></strong> The patients, two males and one female had varying degrees of impairment of sexual differentiation, with or without testis formation. One patient (reared as female and aged 17 years) had Turner syndrome with bilateral streak gonads. The second patient (2.4 years old) had ambiguous genitalia and presented a dysgenetic testis with a contralateral streak gonad. A third patient (26 years old) had bilateral dysgenetic testes (dysgenetic male pseudohermaphroditism). The ratio of 45,X vs. 46,X,+mar(Y) cells differed between patients and between different tissues. In each case the marker sexual chromosome was identified as a rearranged Y-chromosome (idic(Y)) using FISH and PCR analyses. In all cases the SRY gene was present in all tissues studied. No mutations were identified in this gene in any of the patients.</p><p><strong><em>Conclusions. –</em></strong> The extent of male or female differentiation in these patients depends in part on the prevalence, time occurrence, and distribution of the 45,X cell line.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":\"46 4\",\"pages\":\"Pages 443-448\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2003-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00016-9\",\"citationCount\":\"31\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399503000169\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399503000169","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 31

摘要

目标。-根据临床、组织学、细胞遗传学和分子评价,描述45、X/46、X、mar(Y)核型患者的表型谱(临床和性腺特征)。- 3例核型分别为45、X/46、X、mar(Y)的患者。-临床评估、核型、内分泌评估、多个y染色体位点的FISH和PCR分析以及SRY基因的直接测序。-两男一女均有不同程度的性别分化障碍,有或无睾丸形成。1例患者(17岁女性)患有双侧性腺条纹的特纳综合征。第二例患者(2.4岁)生殖器模糊,表现为睾丸发育不良,对侧性腺条纹。第三例患者(26岁)双侧睾丸发育不良(男性假两性发育不良)。45、X和46、X、+mar(Y)细胞的比例在不同患者和不同组织之间存在差异。在每个病例中,标记性染色体被鉴定为重排的Y染色体(idic(Y)),使用FISH和PCR分析。在所有病例中,SRY基因都存在于所有研究的组织中。在所有患者中均未发现该基因突变。这些患者的男性或女性分化程度部分取决于45x细胞系的流行程度、发生时间和分布。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum

Objective. – To delineate the phenotypic spectrum (clinical and gonadal features) from patients with a 45,X/46,X,mar(Y) karyotype based upon of their clinical, histological, cytogenetic and molecular evaluation.

Subjects. – Three patients with a 45,X/46,X,mar(Y) karyotype.

Methods. – Clinical assessment, karyotyping, endocrine evaluation, FISH and PCR analyses of several Y-chromosome loci and direct sequencing of the SRY gene.

Results. – The patients, two males and one female had varying degrees of impairment of sexual differentiation, with or without testis formation. One patient (reared as female and aged 17 years) had Turner syndrome with bilateral streak gonads. The second patient (2.4 years old) had ambiguous genitalia and presented a dysgenetic testis with a contralateral streak gonad. A third patient (26 years old) had bilateral dysgenetic testes (dysgenetic male pseudohermaphroditism). The ratio of 45,X vs. 46,X,+mar(Y) cells differed between patients and between different tissues. In each case the marker sexual chromosome was identified as a rearranged Y-chromosome (idic(Y)) using FISH and PCR analyses. In all cases the SRY gene was present in all tissues studied. No mutations were identified in this gene in any of the patients.

Conclusions. – The extent of male or female differentiation in these patients depends in part on the prevalence, time occurrence, and distribution of the 45,X cell line.

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