Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome
Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hyp...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-05-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922000882 |
| _version_ | 1817991364915232768 |
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| author | Wei Shin Chou Jia Shing Chen Yu Ming Shiao Ju Chin Tsauer Yi Fen Chang Ching Hua Hsiao |
| author_facet | Wei Shin Chou Jia Shing Chen Yu Ming Shiao Ju Chin Tsauer Yi Fen Chang Ching Hua Hsiao |
| author_sort | Wei Shin Chou |
| collection | DOAJ |
| description | Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5. Conclusion: Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome. |
| first_indexed | 2024-04-14T01:11:19Z |
| format | Article |
| id | doaj.art-a2d69b765a774150b5d045deaa7cd5ae |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-14T01:11:19Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-a2d69b765a774150b5d045deaa7cd5ae2022-12-22T02:21:01ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-05-01613514516Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins SyndromeWei Shin Chou0Jia Shing Chen1Yu Ming Shiao2Ju Chin Tsauer3Yi Fen Chang4Ching Hua Hsiao5Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, TaiwanSchool of Medicine for International Students, I-Shou University, Kaohsiung 84001, TaiwanDepartment of Bioscience Technology, Chung Yuan Christian University, TaiwanDepartment of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, TaiwanDepartment of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, TaiwanDepartment of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taiwan; Department of Biomedical Engineering, National Yang Ming Chiao Tung University – Yang Ming Campus, Taiwan; Corresponding author. Institute of Biomedical Engineering, National Yang Ming Chiao Tung University, 155 Linong Street, Sec. 2, Beitou, Taipei 112, Taiwan.Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5. Conclusion: Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome.http://www.sciencedirect.com/science/article/pii/S1028455922000882MicrodeletionTreacher Collins syndromeTCOF1 gene |
| spellingShingle | Wei Shin Chou Jia Shing Chen Yu Ming Shiao Ju Chin Tsauer Yi Fen Chang Ching Hua Hsiao Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome Taiwanese Journal of Obstetrics & Gynecology Microdeletion Treacher Collins syndrome TCOF1 gene |
| title | Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome |
| title_full | Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome |
| title_fullStr | Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome |
| title_full_unstemmed | Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome |
| title_short | Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome |
| title_sort | prenatally diagnosed microdeletion in the tcof1 gene in fetal congenital primary treacher collins syndrome |
| topic | Microdeletion Treacher Collins syndrome TCOF1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922000882 |
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