Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome
Objective: We present progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome. Case report: A 35-year-old, primigravid woman underwent amniocentesis at...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-09-01
|
| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922002236 |
| _version_ | 1798002071292608512 |
|---|---|
| author | Chih-Ping Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Wen-Lin Chen Yun-Yi Chen Wayseen Wang |
| author_facet | Chih-Ping Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Wen-Lin Chen Yun-Yi Chen Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome. Case report: A 35-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of the advanced maternal age. Amniocentesis revealed a karyotype of 45,X [6]/46,XX [14]. Among 20 colonies of cultured amniocytes, six colonies had a karyotype of 45,X, whereas the other 14 colonies had a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed the result of arr [GRCh37] (X) × 1 [0.42] (1–22) × 2. Prenatal ultrasound findings were unremarkable. Repeat amniocentesis at 33 weeks of gestation revealed a karyotype of 45,X [13]/46,XX [7]. Among 20 colonies of cultured amniocytes, 13 colonies had a karyotype of 45,X, whereas the other seven colonies had a karyotype of 46,XX. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes revealed that 44 cells had monosomy X consistent with 44% mosaicism for 45,X, whereas the rest cells had disomy X. At 38 weeks of gestation, a 2675-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [12]/46,XX [28], 45,X [12]/46,XX [28] and 46,XX [40/40], respectively. When follow-up at age three months, the neonate was normal in development. The karyotypes of peripheral blood was 45,X [4]/46,XX [36], and interphase FISH analysis on 100 buccal mucosal cells showed monosomy X in 11 cells consistent with 11% mosaicism for 45,X, whereas the rest cells had disomy X. Conclusion: Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line. |
| first_indexed | 2024-04-11T11:46:23Z |
| format | Article |
| id | doaj.art-3cfac9a1763048f7affa1fa2404a22ac |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-11T11:46:23Z |
| publishDate | 2022-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-3cfac9a1763048f7affa1fa2404a22ac2022-12-22T04:25:33ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-09-01615876879Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcomeChih-Ping Chen0Schu-Rern Chern1Shin-Wen Chen2Fang-Tzu Wu3Chen-Chi Lee4Wen-Lin 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; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, 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 25232448.Department 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 progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome. Case report: A 35-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of the advanced maternal age. Amniocentesis revealed a karyotype of 45,X [6]/46,XX [14]. Among 20 colonies of cultured amniocytes, six colonies had a karyotype of 45,X, whereas the other 14 colonies had a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed the result of arr [GRCh37] (X) × 1 [0.42] (1–22) × 2. Prenatal ultrasound findings were unremarkable. Repeat amniocentesis at 33 weeks of gestation revealed a karyotype of 45,X [13]/46,XX [7]. Among 20 colonies of cultured amniocytes, 13 colonies had a karyotype of 45,X, whereas the other seven colonies had a karyotype of 46,XX. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes revealed that 44 cells had monosomy X consistent with 44% mosaicism for 45,X, whereas the rest cells had disomy X. At 38 weeks of gestation, a 2675-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [12]/46,XX [28], 45,X [12]/46,XX [28] and 46,XX [40/40], respectively. When follow-up at age three months, the neonate was normal in development. The karyotypes of peripheral blood was 45,X [4]/46,XX [36], and interphase FISH analysis on 100 buccal mucosal cells showed monosomy X in 11 cells consistent with 11% mosaicism for 45,X, whereas the rest cells had disomy X. Conclusion: Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line.http://www.sciencedirect.com/science/article/pii/S102845592200223645,X mosaicism45,X/46,XXAmniocentesisMosaic turner syndrome |
| spellingShingle | Chih-Ping Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Wen-Lin Chen Yun-Yi Chen Wayseen Wang Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome Taiwanese Journal of Obstetrics & Gynecology 45,X mosaicism 45,X/46,XX Amniocentesis Mosaic turner syndrome |
| title | Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome |
| title_full | Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome |
| title_fullStr | Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome |
| title_full_unstemmed | Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome |
| title_short | Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome |
| title_sort | progressive increase of the mosaic level for 45 x in 45 x 46 xx at different amniocenteses and postnatal progressive decrease of the 45 x cell line in a mosaic 45 x 46 xx fetus with a favorable outcome |
| topic | 45,X mosaicism 45,X/46,XX Amniocentesis Mosaic turner syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922002236 |
| work_keys_str_mv | AT chihpingchen progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT schurernchern progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT shinwenchen progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT fangtzuwu progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT chenchilee progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT wenlinchen progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT yunyichen progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome AT wayseenwang progressiveincreaseofthemosaiclevelfor45xin45x46xxatdifferentamniocentesesandpostnatalprogressivedecreaseofthe45xcelllineinamosaic45x46xxfetuswithafavorableoutcome |