High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line
Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-05-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922000924 |
| _version_ | 1818203598223310848 |
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| author | Chih-Ping Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Li-Feng Chen Yun-Yi Chen Wayseen Wang |
| author_facet | Chih-Ping Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Li-Feng Chen Yun-Yi Chen Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[22]/46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external genitalia. Repeat amniocentesis was performed at 20 weeks of gestation, and the second amniocentesis revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed that 60% (62/103 cells) were Y-deleted cells. After genetic counseling, the parents decided to continue the pregnancy, and a 3020-g male baby was delivered with a body length of 52 cm, normal male genital organs and no phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were 45,X[20]/46,X,idic(Y)(q11.2)[20], 45,X[31]/46,X,idic(Y)(q11.2)[9] and 45,X[40], respectively. At age one month, FISH analysis on urinary cells and buccal mucosal cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral blood was 45,X[9]/46,X,idic(Y)(q11.2)[31]. FISH analysis on buccal mucosal cells showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype of peripheral blood was 45,X[5]/46,X,idic(Y)(q11.2)[35]. FISH analysis on 102 buccal mucosal cells showed no abnormal signals. The infant was doing well with normal physical and psychomotor development. Conclusion: High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a favorable outcome and progressive decrease of the 45,X cell line. |
| first_indexed | 2024-12-12T03:27:53Z |
| format | Article |
| id | doaj.art-83f5ecf02a504f07b80d17e225fa5078 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-12T03:27:53Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-83f5ecf02a504f07b80d17e225fa50782022-12-22T00:39:59ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-05-01613528531High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell lineChih-Ping Chen0Schu-Rern Chern1Shin-Wen Chen2Fang-Tzu Wu3Chen-Chi Lee4Li-Feng Chen5Yun-Yi Chen6Wayseen Wang7Department 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; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104217, Taiwan. Fax: +886-2-25433642, +886-2-25232448Department of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[22]/46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external genitalia. Repeat amniocentesis was performed at 20 weeks of gestation, and the second amniocentesis revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed that 60% (62/103 cells) were Y-deleted cells. After genetic counseling, the parents decided to continue the pregnancy, and a 3020-g male baby was delivered with a body length of 52 cm, normal male genital organs and no phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were 45,X[20]/46,X,idic(Y)(q11.2)[20], 45,X[31]/46,X,idic(Y)(q11.2)[9] and 45,X[40], respectively. At age one month, FISH analysis on urinary cells and buccal mucosal cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral blood was 45,X[9]/46,X,idic(Y)(q11.2)[31]. FISH analysis on buccal mucosal cells showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype of peripheral blood was 45,X[5]/46,X,idic(Y)(q11.2)[35]. FISH analysis on 102 buccal mucosal cells showed no abnormal signals. The infant was doing well with normal physical and psychomotor development. Conclusion: High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a favorable outcome and progressive decrease of the 45,X cell line.http://www.sciencedirect.com/science/article/pii/S102845592200092446,X,idic(Y)(q11.2)AmniocentesisIsodicentric YpMosaic 45,X/46,X,idic(Yp)Turner syndrome |
| spellingShingle | Chih-Ping Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Li-Feng Chen Yun-Yi Chen Wayseen Wang High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line Taiwanese Journal of Obstetrics & Gynecology 46,X,idic(Y)(q11.2) Amniocentesis Isodicentric Yp Mosaic 45,X/46,X,idic(Yp) Turner syndrome |
| title | High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line |
| title_full | High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line |
| title_fullStr | High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line |
| title_full_unstemmed | High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line |
| title_short | High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line |
| title_sort | high level mosaicism for 45 x in 45 x 46 x idic y q11 2 at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45 x cell line |
| topic | 46,X,idic(Y)(q11.2) Amniocentesis Isodicentric Yp Mosaic 45,X/46,X,idic(Yp) Turner syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922000924 |
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