{"title":"一例羊水穿刺显示 6 号染色体三体嵌合的临床病程和遗传学分析","authors":"Naoya Kitamura , Yuki Ito , Tomoko Kawai , Hiromi Kamura , Michihiro Yamamura , Haruna Okubo , Akihiro Hasegawa , Momoko Inoue , Ken Takahashi , Michiko Miya , Hiroshi Kawame , Osamu Samura , Aikou Okamoto","doi":"10.1016/j.tjog.2024.03.009","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.</p></div><div><h3>Case report</h3><p>Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy. The infant was delivered vaginally at 39 weeks' gestation. The male infant weighed 3002 g at birth with no morphological abnormalities. G-banding karyotype analysis performed on the infant's peripheral blood revealed 46,XY[20]. FISH analysis revealed trisomy signals on chromosome 6 in 1–4 out of 100 cells from the placenta. The single nucleotide polymorphism microarray of the umbilical cord blood revealed no abnormalities. Methylation analysis of umbilical cord blood revealed no abnormalities in <em>PLAGL1</em>. No disorders were observed at one year of age.</p></div><div><h3>Conclusion</h3><p>When amniocentesis reveals chromosomal mosaicism, it is essential to provide a thorough fetal ultrasound examination and careful genetic counseling to support the couples’ decision-making.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S102845592400086X/pdfft?md5=5542ff4a9fc752b8108ceaf4907fc6c9&pid=1-s2.0-S102845592400086X-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism\",\"authors\":\"Naoya Kitamura , Yuki Ito , Tomoko Kawai , Hiromi Kamura , Michihiro Yamamura , Haruna Okubo , Akihiro Hasegawa , Momoko Inoue , Ken Takahashi , Michiko Miya , Hiroshi Kawame , Osamu Samura , Aikou Okamoto\",\"doi\":\"10.1016/j.tjog.2024.03.009\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.</p></div><div><h3>Case report</h3><p>Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy. The infant was delivered vaginally at 39 weeks' gestation. The male infant weighed 3002 g at birth with no morphological abnormalities. G-banding karyotype analysis performed on the infant's peripheral blood revealed 46,XY[20]. FISH analysis revealed trisomy signals on chromosome 6 in 1–4 out of 100 cells from the placenta. The single nucleotide polymorphism microarray of the umbilical cord blood revealed no abnormalities. Methylation analysis of umbilical cord blood revealed no abnormalities in <em>PLAGL1</em>. No disorders were observed at one year of age.</p></div><div><h3>Conclusion</h3><p>When amniocentesis reveals chromosomal mosaicism, it is essential to provide a thorough fetal ultrasound examination and careful genetic counseling to support the couples’ decision-making.</p></div>\",\"PeriodicalId\":49449,\"journal\":{\"name\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S102845592400086X/pdfft?md5=5542ff4a9fc752b8108ceaf4907fc6c9&pid=1-s2.0-S102845592400086X-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S102845592400086X\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Taiwanese Journal of Obstetrics & Gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S102845592400086X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism
Objective
Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.
Case report
Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy. The infant was delivered vaginally at 39 weeks' gestation. The male infant weighed 3002 g at birth with no morphological abnormalities. G-banding karyotype analysis performed on the infant's peripheral blood revealed 46,XY[20]. FISH analysis revealed trisomy signals on chromosome 6 in 1–4 out of 100 cells from the placenta. The single nucleotide polymorphism microarray of the umbilical cord blood revealed no abnormalities. Methylation analysis of umbilical cord blood revealed no abnormalities in PLAGL1. No disorders were observed at one year of age.
Conclusion
When amniocentesis reveals chromosomal mosaicism, it is essential to provide a thorough fetal ultrasound examination and careful genetic counseling to support the couples’ decision-making.
期刊介绍：
Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology.
The aims of the journal are to:
1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health
2.Deliver evidence-based information
3.Promote the sharing of clinical experience
4.Address women-related health promotion
The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.
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