Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin
Objective: We present prenatal diagnosis of recurrent mosaic ring chromosome 13 [r(13)] of maternal origin. Case Report: A 27-year-old woman underwent amniocentesis at 17 weeks of gestation because of a past history of fetal abnormality caused by mosaic r(13) in the previous fetus associated with fe...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-07-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455921001455 |
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| author | Chih-Ping Chen Chen-Yu Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Wen-Lin Chen Meng-Shan Lee Wayseen Wang |
| author_facet | Chih-Ping Chen Chen-Yu Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Wen-Lin Chen Meng-Shan Lee Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present prenatal diagnosis of recurrent mosaic ring chromosome 13 [r(13)] of maternal origin. Case Report: A 27-year-old woman underwent amniocentesis at 17 weeks of gestation because of a past history of fetal abnormality caused by mosaic r(13) in the previous fetus associated with fetal intrauterine growth restriction (IUGR), a karyotype of 46,XY,r(13)[23]/45,XY,-13[10]/46,XY,idic r(13)[2] and a maternal origin of abnormal r(13). The parental karyotypes were normal. During this pregnancy, amniocentesis revealed a karyotype of 46,XX,r(13)[12]/45,XX,-13[8] and a 22.80-Mb deletion of chromosome 13q31.3-q34. The pregnancy was subsequently terminated, and a malformed fetus was delivered with craniofacial dysmorphism. Repeat amniocentesis revealed a karyotype of 46,XX,r(13)(p11.1q31)[18]/45,XX,-13[12]. The placenta had a karyotype of 46,XX,r(13)(p11.1q31)[27]/45,XY,-13[13]. Polymorphic DNA marker analysis using the DNA derived from the parental bloods and umbilical cord confirmed a maternal origin of the abnormal r(13). Conclusion: Prenatal diagnosis of mosaic r(13) in consecutive pregnancies should raise a suspicion of parental gonadal mosaicism, and polymorphic DNA marker analysis is useful for determination of the parental origin of recurrent aneuploidy under such a circumstance. |
| first_indexed | 2024-12-16T07:25:59Z |
| format | Article |
| id | doaj.art-7748c5552962498ca5762d5150173687 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-16T07:25:59Z |
| publishDate | 2021-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-7748c5552962498ca5762d51501736872022-12-21T22:39:30ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592021-07-01604771774Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal originChih-Ping Chen0Chen-Yu Chen1Schu-Rern Chern2Shin-Wen Chen3Fang-Tzu Wu4Wen-Lin Chen5Meng-Shan Lee6Wayseen Wang7Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, 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, 10449, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, TaiwanDepartment 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, TaiwanObjective: We present prenatal diagnosis of recurrent mosaic ring chromosome 13 [r(13)] of maternal origin. Case Report: A 27-year-old woman underwent amniocentesis at 17 weeks of gestation because of a past history of fetal abnormality caused by mosaic r(13) in the previous fetus associated with fetal intrauterine growth restriction (IUGR), a karyotype of 46,XY,r(13)[23]/45,XY,-13[10]/46,XY,idic r(13)[2] and a maternal origin of abnormal r(13). The parental karyotypes were normal. During this pregnancy, amniocentesis revealed a karyotype of 46,XX,r(13)[12]/45,XX,-13[8] and a 22.80-Mb deletion of chromosome 13q31.3-q34. The pregnancy was subsequently terminated, and a malformed fetus was delivered with craniofacial dysmorphism. Repeat amniocentesis revealed a karyotype of 46,XX,r(13)(p11.1q31)[18]/45,XX,-13[12]. The placenta had a karyotype of 46,XX,r(13)(p11.1q31)[27]/45,XY,-13[13]. Polymorphic DNA marker analysis using the DNA derived from the parental bloods and umbilical cord confirmed a maternal origin of the abnormal r(13). Conclusion: Prenatal diagnosis of mosaic r(13) in consecutive pregnancies should raise a suspicion of parental gonadal mosaicism, and polymorphic DNA marker analysis is useful for determination of the parental origin of recurrent aneuploidy under such a circumstance.http://www.sciencedirect.com/science/article/pii/S1028455921001455Gonadal mosaicismPrenatal diagnosisr(13)RecurrenceRing chromosome 13 |
| spellingShingle | Chih-Ping Chen Chen-Yu Chen Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Wen-Lin Chen Meng-Shan Lee Wayseen Wang Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin Taiwanese Journal of Obstetrics & Gynecology Gonadal mosaicism Prenatal diagnosis r(13) Recurrence Ring chromosome 13 |
| title | Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin |
| title_full | Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin |
| title_fullStr | Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin |
| title_full_unstemmed | Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin |
| title_short | Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin |
| title_sort | prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin |
| topic | Gonadal mosaicism Prenatal diagnosis r(13) Recurrence Ring chromosome 13 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455921001455 |
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