High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line

Chen Chih-Ping; Chern Schu-Rern; Chen Shin -WenWu Fang-TzuLee Chen-ChiChen Yun-YiWang Wayseen

首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line

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High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line

机译：High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line

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Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 32-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of the abnormal first-trimester maternal serum screening result indicating a 1/34 risk for Down syndrome. Amniocentesis revealed a karyotype of 45,X27/46,XX15. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed 12 mosaicism for monosomy X. Prenatal ultrasound was normal. The pregnancy was carried to term, and a 2780-g phenotypically normal female baby was delivered. The cord blood had a karyotype of 45,X12/46,XX28. At age one month, the peripheral blood had a karyotype of 45,X13/46,XX27. Interphase fluorescence in situ hybridization (FISH) analysis on the buccal mucosal cells revealed 2 (2/102 cells) mosaicism for monosomy X, compared with 1 (1/100 cells) in the normal control. When follow-up at age one year, she was doing well with normal physical and psychomotor development. Her body weight was 9.9 Kg (50th -85th centile), and her body height was 75 cm (50th -85th centile). The peripheral blood had a karyotype of 45,X4/46,XY36. Conclusion: High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line. (C) 2022 Taiwan Association of Obstetrics Gynecology. Publishing services by Elsevier B.V.

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《Taiwanese journal of obstetrics and gynecology》 |2022年第4期|700-702|共3页
作者
Chen Chih-Ping; Chern Schu-Rern; Chen Shin -WenWu Fang-TzuLee Chen-ChiChen Yun-YiWang Wayseen;
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作者单位

Dept Obstet & Gynecol,Mackay Mem Hosp;

Dept Med Res,MacKay Mem Hosp;

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原文格式 PDF
正文语种英语
中图分类妇产科学;
关键词
45; X mosaicism; 46; X; /46; XX; Amniocentesis; Mosaic turner syndrome; PRENATAL-DIAGNOSIS;

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line

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