Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome
Objective: We present low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome. Case report: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-05-01
|
| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455923000888 |
| _version_ | 1797826934684516352 |
|---|---|
| author | Chih-Ping Chen Fang-Tzu Wu Schu-Rern Chern Peih-Shan Wu Yen-Ting Pan Meng-Shan Lee Wayseen Wang |
| author_facet | Chih-Ping Chen Fang-Tzu Wu Schu-Rern Chern Peih-Shan Wu Yen-Ting Pan Meng-Shan Lee Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome. Case report: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 48,XY,+6,+20[2]/46,XY[15]. Repeat amniocentesis at 20 weeks of gestation revealed a karyotype of 48,XY,+6,+20[6]/46,XY[43], and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (X,Y) × 1, (1–22) × 2 with no genomic imbalance. At 22 weeks of gestation, the woman underwent cordocentesis which revealed karyotype of 46,XY (60/60 cells). At 26 weeks of gestation, the woman underwent the third amniocentesis which revealed a karyotype of 48,XY,+6,+20[5]/46,XY[30], and simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1–22) × 2, X × 1, Y × 1 without genomic imbalance. The parental karyotypes and prenatal ultrasound were normal. Polymorphic marker analysis using the DNAs extracted from uncultured amniocytes and parental bloods excluded UPD 6 and UPD 20. Interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes detected double trisomy 6 and trisomy 20 in 10 cells, consistent with 10% (10/100 cells) mosaicism for double trisomy 6 and trisomy 20. The woman was encouraged to continue the pregnancy, and a phenotypically normal 3328-g male baby was delivered at 38 weeks of gestation. The cord blood, umbilical cord and the placenta had a karyotype of 46,XY (40/40 cells). Conclusion: Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 at amniocentesis without UPD 6 and UPD 20 can be associated with a favorable fetal outcome. |
| first_indexed | 2024-04-09T12:40:17Z |
| format | Article |
| id | doaj.art-e934e4eec93045df9b18cdad8e15b392 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-09T12:40:17Z |
| publishDate | 2023-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-e934e4eec93045df9b18cdad8e15b3922023-05-15T04:13:46ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592023-05-01623470473Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcomeChih-Ping Chen0Fang-Tzu Wu1Schu-Rern Chern2Peih-Shan Wu3Yen-Ting Pan4Meng-Shan Lee5Wayseen Wang6Department 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; Corresponding author. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, 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, TaiwanObjective: We present low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome. Case report: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 48,XY,+6,+20[2]/46,XY[15]. Repeat amniocentesis at 20 weeks of gestation revealed a karyotype of 48,XY,+6,+20[6]/46,XY[43], and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (X,Y) × 1, (1–22) × 2 with no genomic imbalance. At 22 weeks of gestation, the woman underwent cordocentesis which revealed karyotype of 46,XY (60/60 cells). At 26 weeks of gestation, the woman underwent the third amniocentesis which revealed a karyotype of 48,XY,+6,+20[5]/46,XY[30], and simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1–22) × 2, X × 1, Y × 1 without genomic imbalance. The parental karyotypes and prenatal ultrasound were normal. Polymorphic marker analysis using the DNAs extracted from uncultured amniocytes and parental bloods excluded UPD 6 and UPD 20. Interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes detected double trisomy 6 and trisomy 20 in 10 cells, consistent with 10% (10/100 cells) mosaicism for double trisomy 6 and trisomy 20. The woman was encouraged to continue the pregnancy, and a phenotypically normal 3328-g male baby was delivered at 38 weeks of gestation. The cord blood, umbilical cord and the placenta had a karyotype of 46,XY (40/40 cells). Conclusion: Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 at amniocentesis without UPD 6 and UPD 20 can be associated with a favorable fetal outcome.http://www.sciencedirect.com/science/article/pii/S1028455923000888MosaicismTrisomy 6Trisomy 20UPD 6UPD 20 |
| spellingShingle | Chih-Ping Chen Fang-Tzu Wu Schu-Rern Chern Peih-Shan Wu Yen-Ting Pan Meng-Shan Lee Wayseen Wang Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome Taiwanese Journal of Obstetrics & Gynecology Mosaicism Trisomy 6 Trisomy 20 UPD 6 UPD 20 |
| title | Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome |
| title_full | Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome |
| title_fullStr | Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome |
| title_full_unstemmed | Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome |
| title_short | Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome |
| title_sort | low level mosaic double trisomy involving trisomy 6 and trisomy 20 48 xy 6 20 at amniocentesis without uniparental disomy upd 6 and upd 20 in a pregnancy associated with a favorable outcome |
| topic | Mosaicism Trisomy 6 Trisomy 20 UPD 6 UPD 20 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455923000888 |
| work_keys_str_mv | AT chihpingchen lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome AT fangtzuwu lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome AT schurernchern lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome AT peihshanwu lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome AT yentingpan lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome AT mengshanlee lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome AT wayseenwang lowlevelmosaicdoubletrisomyinvolvingtrisomy6andtrisomy2048xy620atamniocentesiswithoutuniparentaldisomyupd6andupd20inapregnancyassociatedwithafavorableoutcome |