Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3. Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(18)(q1...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2017-12-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455917302668 |
| _version_ | 1819100601297928192 |
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| author | Chih-Ping Chen Chih-Heng Hsieh Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang |
| author_facet | Chih-Ping Chen Chih-Heng Hsieh Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3.
Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(18)(q12.1q12.3). The fetal ultrasound was unremarkable. The woman underwent repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) using uncultured amniocytes revealed a 10.76-Mb interstitial deletion 18q12.1-q12.3 or arr 18q12.1q12.3 (31,944,347–42,704,784) × 1.0 encompassing 19 Online Mendelian Inheritance of in Man (OMIM) genes including DTNA, CELF4 and SETBP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes confirmed an 18q proximal interstitial deletion. The parental karyotypes were normal. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated at 24 weeks of gestation, and a 650-g fetus was delivered with characteristic facial dysmorphism.
Conclusion: aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling. |
| first_indexed | 2024-12-22T01:05:22Z |
| format | Article |
| id | doaj.art-66981e6c033447a1b5d11aeb55600ba1 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-22T01:05:22Z |
| publishDate | 2017-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-66981e6c033447a1b5d11aeb55600ba12022-12-21T18:44:06ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592017-12-0156684785110.1016/j.tjog.2017.10.027Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1Chih-Ping Chen0Chih-Heng Hsieh1Schu-Rern Chern2Peih-Shan Wu3Shin-Wen Chen4Shih-Ting Lai5Tzu-Yun Chuang6Chien-Wen Yang7Chen-Chi Lee8Wayseen Wang9Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, BIN KUN Women's & Children's Hospital, Taoyuan, 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 Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, 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 and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3. Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(18)(q12.1q12.3). The fetal ultrasound was unremarkable. The woman underwent repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) using uncultured amniocytes revealed a 10.76-Mb interstitial deletion 18q12.1-q12.3 or arr 18q12.1q12.3 (31,944,347–42,704,784) × 1.0 encompassing 19 Online Mendelian Inheritance of in Man (OMIM) genes including DTNA, CELF4 and SETBP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes confirmed an 18q proximal interstitial deletion. The parental karyotypes were normal. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated at 24 weeks of gestation, and a 650-g fetus was delivered with characteristic facial dysmorphism. Conclusion: aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling.http://www.sciencedirect.com/science/article/pii/S102845591730266818q12.1-q12.3 deletionCELF4DTNAPrenatal diagnosisSETBP1 |
| spellingShingle | Chih-Ping Chen Chih-Heng Hsieh Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 Taiwanese Journal of Obstetrics & Gynecology 18q12.1-q12.3 deletion CELF4 DTNA Prenatal diagnosis SETBP1 |
| title | Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 |
| title_full | Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 |
| title_fullStr | Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 |
| title_full_unstemmed | Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 |
| title_short | Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 |
| title_sort | prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12 1 q12 3 encompassing dtna celf4 and setbp1 |
| topic | 18q12.1-q12.3 deletion CELF4 DTNA Prenatal diagnosis SETBP1 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455917302668 |
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