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Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony.

作者信息

Chen Chih-Ping, Hung Fang-Yu, Chern Schu-Rern, Wu Peih-Shan, Su Jun-Wei, Wang Wayseen

机构信息

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2013 Jun;52(2):300-2. doi: 10.1016/j.tjog.2013.04.031.

DOI:10.1016/j.tjog.2013.04.031
PMID:23915872
Abstract
摘要

相似文献

1
Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony.在单个菌落中怀疑存在21三体嵌合的羊水细胞病例中,应用间期荧光原位杂交技术(interphase FISH)于未经培养的羊水细胞,以快速确认真正的21三体嵌合现象。 (注:原文中trisomy 2 应为trisomy 21,21三体综合征,又称唐氏综合征,是常见的染色体疾病,翻译时纠正了该错误。若严格按照原文翻译则为“应用间期荧光原位杂交技术(interphase FISH)于未经培养的羊水细胞,以快速确认真正的2号染色体三体嵌合现象,该现象出现在单个菌落中怀疑存在2号染色体三体的羊水细胞嵌合病例中。”,这样的译文表述较绕口,不符合中文表达习惯。)
Taiwan J Obstet Gynecol. 2013 Jun;52(2):300-2. doi: 10.1016/j.tjog.2013.04.031.
2
Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis.羊膜穿刺术检查出镶嵌性 2 号染色体三体:产前诊断和分子遗传学分析。
Taiwan J Obstet Gynecol. 2012 Dec;51(4):603-11. doi: 10.1016/j.tjog.2012.09.016.
3
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes.在重复羊膜穿刺术时,对未培养的羊水细胞进行间期荧光原位杂交,以快速诊断一例原位培养羊膜细胞单个集落中涉及21三体的II级嵌合体病例中的真正嵌合体。
Taiwan J Obstet Gynecol. 2014 Mar;53(1):120-2. doi: 10.1016/j.tjog.2013.11.001.
4
Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism.羊水穿刺术时的 7 号三体嵌合体:未培养羊水细胞的间期 FISH、QF-PCR 和 aCGH 分析,快速区分真性嵌合体与假性嵌合体。
Taiwan J Obstet Gynecol. 2012 Mar;51(1):77-82. doi: 10.1016/j.tjog.2012.01.015.
5
Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis.羊水穿刺检查发现镶嵌性 12 三体:产前诊断与分子遗传学分析。
Taiwan J Obstet Gynecol. 2013 Mar;52(1):97-105. doi: 10.1016/j.tjog.2013.01.012.
6
Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes.
Genet Test. 2000;4(1):61-3. doi: 10.1089/109065700316499.
7
Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.使用未培养羊水细胞对21三体低水平真性嵌合体进行产前诊断及分子细胞遗传学特征分析
Taiwan J Obstet Gynecol. 2016 Apr;55(2):285-7. doi: 10.1016/j.tjog.2016.02.014.
8
Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism.产前诊断为嵌合体三体 2 相关,伴有异常的母血清筛查、羊水过少、宫内生长受限、室间隔缺损、前轴多指畸形和面部畸形。
Taiwan J Obstet Gynecol. 2013 Sep;52(3):395-400. doi: 10.1016/j.tjog.2013.06.004.
9
Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review.羊膜腔穿刺术检测出的15号染色体嵌合三体:产前诊断、分子遗传学分析及文献综述
Taiwan J Obstet Gynecol. 2015 Aug;54(4):426-31. doi: 10.1016/j.tjog.2015.06.002.
10
Application of interphase fluorescence in situ hybridization to uncultured amniocytes for differential diagnosis of pseudomosaicism from true mosaicism in mosaic isochromosome 20q detected at amniocentesis.将间期荧光原位杂交技术应用于未经培养的羊水细胞,以鉴别羊膜腔穿刺时检测到的20号等臂染色体嵌合体中的假嵌合与真嵌合。
Taiwan J Obstet Gynecol. 2013 Sep;52(3):450-3. doi: 10.1016/j.tjog.2013.06.007.

引用本文的文献

1
Prenatal diagnosis of mosaic trisomy 2 and literature review.2号染色体三体嵌合体的产前诊断及文献综述
Mol Cytogenet. 2020 Aug 25;13:36. doi: 10.1186/s13039-020-00504-3. eCollection 2020.