在羊膜穿刺术检查中发现一例 45,X/47,XXX 妊娠，通过荧光原位杂交技术检测到 X 单体性细胞系，不同组织的细胞遗传学差异及良好的结局。

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome.

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 and Health Science, Asia University, Taichung, Taiwan.

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

出版信息

Taiwan J Obstet Gynecol. 2023 Nov;62(6):906-909. doi: 10.1016/j.tjog.2023.09.005.

DOI:10.1016/j.tjog.2023.09.005

PMID:38008513

Abstract

OBJECTIVE

We present perinatal detection of disomy X cell line by fluorescence in situ hybridization (FISH) in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome.

CASE REPORT

A 34-year-old, gravida 3, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[22]/47,XXX[10]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (X) × 1-2, (1-22) × 2, consistent with 32% mosaicism for monosomy X. She was referred for genetic counseling at 19 weeks of gestation. Prenatal ultrasound findings and parental karyotypes were normal. Repeat amniocentesis at 29 weeks of gestation revealed a karyotype of 45,X[36]/47,XXX[4] (Fig. 1) in cultured amniocytes. Simultaneous molecular analysis on uncultured amniocytes revealed the result of arr (1-22) × 2, Y × 0 by aCGH with no genomic imbalance, and 15% (15/100 cells) mosaicism for disomy X, 61% (61/100 cells) mosaicism for monosomy X and 24% (24/100 cells) mosaicism for triple X by interphase fluorescence in situ hybridization (FISH) analysis. The pregnancy was encouraged to continue and at 37 weeks of gestation, a 2834-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X[33]/47,XXX[7], 45,X[30]/47,XXX[10] and 47,XXX[38]/45,X[2], respectively. When follow-up at age three months, the neonate was normal in development. FISH analysis on 99 buccal mucosal cells showed 49% (48/99 cells) mosaicism for monosomy X, 8% (8/99 cells) mosaicism for triple X and 43% (42/99 cells) mosaicism for disomy X (Fig. 2). Peripheral blood had a karyotype of 45,X[38]/47,XXX[2]. When follow-up at age nine months, the neonate was normal in development. FISH analysis on 102 buccal mucosal cells showed 11% (11/102 cells) mosaicism for monosomy X, 12% (12/102 cells) mosaicism for triple X and 77% (79/102 cells) mosaicism for disomy X. Peripheral blood had a karyotype of 45,X[30]/47,XXX[10].

CONCLUSION

45,X/47,XXX at amniocentesis may detect disomy X cell line by FISH analysis and can be associated with postnatal progressive decrease of the aneuploid cell lines, increase of the disomy X cell line and a favorable outcome.

摘要

目的

我们通过荧光原位杂交（FISH）在羊水穿刺中发现一例 45,X/47,XXX 的胎儿，并伴有细胞遗传学在各种组织中的差异和良好的结局。

病例报告

一名 34 岁，孕 3 产 1 的女性，因高龄接受了 17 周的羊水穿刺。羊水穿刺显示核型为 45,X[22]/47,XXX[10]。同时对未经培养的羊水细胞提取的 DNA 进行比较基因组杂交（aCGH）分析，结果为 arr (X) × 1-2, (1-22) × 2，提示 X 单体型嵌合体为 32%。她在 19 周妊娠时被转介进行遗传咨询。产前超声检查和父母的核型均正常。29 周妊娠时再次进行羊水穿刺，发现培养的羊水细胞中有 45,X[36]/47,XXX[4]（图 1）。同时对未经培养的羊水细胞进行分子分析，aCGH 结果为 arr (1-22) × 2，Y × 0，无基因组不平衡，15%（15/100 个细胞）为 X 三体型嵌合体，61%（61/100 个细胞）为 X 单体型嵌合体，24%（24/100 个细胞）为 X 三体型嵌合体通过间期荧光原位杂交（FISH）分析。妊娠被鼓励继续进行，37 周时，分娩出 1 名 2834 克表型正常的女婴。脐带血、脐带和胎盘的核型分别为 45,X[33]/47,XXX[7]、45,X[30]/47,XXX[10]和 47,XXX[38]/45,X[2]。3 个月随访时，新生儿发育正常。99 个口腔颊黏膜细胞的 FISH 分析显示，X 单体型嵌合体为 49%（48/99 个细胞），X 三体型嵌合体为 8%（8/99 个细胞），X 二倍体嵌合体为 43%（42/99 个细胞）（图 2）。外周血核型为 45,X[38]/47,XXX[2]。9 个月随访时，新生儿发育正常。102 个口腔颊黏膜细胞的 FISH 分析显示，X 单体型嵌合体为 11%（11/102 个细胞），X 三体型嵌合体为 12%（12/102 个细胞），X 二倍体嵌合体为 77%（79/102 个细胞）。外周血核型为 45,X[30]/47,XXX[10]。

结论

羊水穿刺中发现的 45,X/47,XXX 可能通过 FISH 分析检测到 X 三体型嵌合体，并可能与产后逐渐减少的非整倍体型嵌合体、增加的 X 二倍体型嵌合体和良好的结局有关。

相似文献

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome.

Taiwan J Obstet Gynecol. 2023 Nov;62(6):906-909. doi: 10.1016/j.tjog.2023.09.005.

45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.

Taiwan J Obstet Gynecol. 2023 Nov;62(6):901-905. doi: 10.1016/j.tjog.2023.09.004.

Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues.

Taiwan J Obstet Gynecol. 2023 Jan;62(1):148-154. doi: 10.1016/j.tjog.2022.01.014.

Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the aneuploid cell line.

Taiwan J Obstet Gynecol. 2023 May;62(3):461-465. doi: 10.1016/j.tjog.2023.03.009.

Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line.

Taiwan J Obstet Gynecol. 2023 Mar;62(2):358-362. doi: 10.1016/j.tjog.2022.12.007.

Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.

Taiwan J Obstet Gynecol. 2024 Sep;63(5):755-758. doi: 10.1016/j.tjog.2024.07.006.

Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome.

Taiwan J Obstet Gynecol. 2023 Jul;62(4):606-610. doi: 10.1016/j.tjog.2023.05.012.

Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome.

Taiwan J Obstet Gynecol. 2023 Jul;62(4):571-576. doi: 10.1016/j.tjog.2023.05.002.

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.

Taiwan J Obstet Gynecol. 2024 May;63(3):394-397. doi: 10.1016/j.tjog.2024.03.007.

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.

Taiwan J Obstet Gynecol. 2023 Jul;62(4):582-585. doi: 10.1016/j.tjog.2023.05.004.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

在羊膜穿刺术检查中发现一例 45,X/47,XXX 妊娠，通过荧光原位杂交技术检测到 X 单体性细胞系，不同组织的细胞遗传学差异及良好的结局。

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome.

机构信息

出版信息

OBJECTIVE

CASE REPORT

CONCLUSION

目的

病例报告

结论

相似文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献