Balanced Robertsonian translocation mosaicism of mosaic 45,XY,der(13;21) (q10;q10)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no perinatal decrease of the cell line with the balanced Robertsonian translocation.

作者信息

Chen Chih-Ping

机构信息

Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2024 Jul;63(4):572-574. doi: 10.1016/j.tjog.2024.05.014.

DOI:10.1016/j.tjog.2024.05.014

PMID:39004492

Abstract

摘要

相似文献

Balanced Robertsonian translocation mosaicism of mosaic 45,XY,der(13;21) (q10;q10)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no perinatal decrease of the cell line with the balanced Robertsonian translocation.

Taiwan J Obstet Gynecol. 2024 Jul;63(4):572-574. doi: 10.1016/j.tjog.2024.05.014.

Mosaic distal 13q duplication due to mosaic unbalanced translocation of 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.羊水穿刺检查发现 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY 嵌合体不平衡易位导致的镶嵌性 13q 远端部分重复，与该嵌合体相关的妊娠具有良好的胎儿结局，在围产期时非整倍体细胞系逐渐减少，且培养的羊水细胞与未培养的羊水细胞之间的细胞遗传学存在差异。

Taiwan J Obstet Gynecol. 2024 Sep;63(5):750-754. doi: 10.1016/j.tjog.2024.07.005.

Balanced reciprocal translocation mosaicism of mosaic 46,XY,t(4;10) (q12;p12.32)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the balanced translocation cell line.

Taiwan J Obstet Gynecol. 2024 Jul;63(4):575-577. doi: 10.1016/j.tjog.2024.05.015.

Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome.羊膜穿刺术时罗伯逊易位嵌合体：45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, 遗传咨询，产前诊断及对有良好胎儿结局妊娠的产后随访。

Taiwan J Obstet Gynecol. 2023 Jul;62(4):588-593. doi: 10.1016/j.tjog.2023.05.006.

Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.在一项与围产期非整倍体细胞系逐渐减少和良好胎儿结局相关的妊娠中，羊膜穿刺术发现马赛克远端 9p 缺失或 46,XY,del(9)(p23)/46,XY。

Taiwan J Obstet Gynecol. 2024 Jul;63(4):540-544. doi: 10.1016/j.tjog.2024.05.007.

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.羊膜穿刺术时发现低水平嵌合型 21 三体，伴有不同组织细胞遗传学的差异，围产期 21 三体细胞系逐渐减少，且胎儿结局良好。

Taiwan J Obstet Gynecol. 2023 Nov;62(6):891-895. doi: 10.1016/j.tjog.2023.09.002.

Mosaic distal 10q deletion or 46,XY,del(10) (q26.13)/46,XY at amniocentesis and cordocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.在妊娠期间，羊水细胞培养与未培养的羊水细胞之间存在细胞遗传学差异，行羊膜腔穿刺术和脐带穿刺术发现存在 10q 远端镶嵌缺失或 46,XY,del(10)(q26.13)/46,XY，随后出现胎儿非整倍体细胞系进行性减少，且围产儿结局良好。

Taiwan J Obstet Gynecol. 2024 May;63(3):398-401. doi: 10.1016/j.tjog.2024.03.008.

Prenatal diagnosis and molecular cytogenetic analyses of a homozygous Robertsonian translocation family with novel mosaic Robertsonian fission karyotype.同一家系罗氏易位纯合子的产前诊断和分子细胞遗传学分析，具有新型罗氏易位分裂核型嵌合体。

Psychiatr Genet. 2024 Oct 1;34(5):106-110. doi: 10.1097/YPG.0000000000000377. Epub 2024 Aug 22.

Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation.羊膜穿刺术时发现胎儿为嵌合型 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY，该妊娠结局良好，伴有不平衡易位的非整倍体细胞系在产后减少。

Taiwan J Obstet Gynecol. 2023 Jan;62(1):142-147. doi: 10.1016/j.tjog.2022.01.013.

Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10).新发小额外标记染色体 15 来源的分子细胞遗传学特征：一例偶然发现的母源性罗伯逊易位 45,XX,der(13;14) (q10;q10) 携带者妊娠

Taiwan J Obstet Gynecol. 2022 Jan;61(1):132-134. doi: 10.1016/j.tjog.2021.11.021.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验