Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy
Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. Case report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was terminated at 23+2 weeks of gestation. The fetus of...
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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/S1028455922000857 |
| _version_ | 1817991347423936512 |
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| author | Yung Chen Chien Jia Shing Chen Yu Ming Shiao Ching Hua Hsiao |
| author_facet | Yung Chen Chien Jia Shing Chen Yu Ming Shiao Ching Hua Hsiao |
| author_sort | Yung Chen Chien |
| collection | DOAJ |
| description | Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. Case report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was terminated at 23+2 weeks of gestation. The fetus of the current pregnancy harbored a de novo copy number variation at the Xq recurrent region (int22h1/int22h2-flanked; including the RAB39B gene) with a 0.397 Mb microduplication. The literature suggests the clinical manifestation of int22h1/int22h2-mediated Xq28 duplication syndrome tends to show a milder clinical phenotype in females than males. Although the fetus in this case was female, taking into consideration the parents' age and culture, the family decided to terminate this pregnancy due to the genetic abnormality. Conclusion: Prenatally diagnosed de novo int22h-1/int22h-2-mediated Xq28 duplication syndrome exhibits variable phenotypic traits in female fetuses. |
| first_indexed | 2024-04-14T01:12:12Z |
| format | Article |
| id | doaj.art-73fd74fa05544bd997aa9be4e54bbe1e |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-14T01:12:12Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-73fd74fa05544bd997aa9be4e54bbe1e2022-12-22T02:21:01ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-05-01613501503Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancyYung Chen Chien0Jia Shing Chen1Yu Ming Shiao2Ching Hua Hsiao3Department of Medical Education, Taipei Medical University Hospital, TaiwanSchool of Medicine for International Students, I-Shou University, Kaohsiung, TaiwanDepartment of Bioscience Technology, Chung Yuan Christian University, 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. Fax: +886 2 28210847.Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. Case report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was terminated at 23+2 weeks of gestation. The fetus of the current pregnancy harbored a de novo copy number variation at the Xq recurrent region (int22h1/int22h2-flanked; including the RAB39B gene) with a 0.397 Mb microduplication. The literature suggests the clinical manifestation of int22h1/int22h2-mediated Xq28 duplication syndrome tends to show a milder clinical phenotype in females than males. Although the fetus in this case was female, taking into consideration the parents' age and culture, the family decided to terminate this pregnancy due to the genetic abnormality. Conclusion: Prenatally diagnosed de novo int22h-1/int22h-2-mediated Xq28 duplication syndrome exhibits variable phenotypic traits in female fetuses.http://www.sciencedirect.com/science/article/pii/S1028455922000857X-linked intellectual disabilityXq28 duplication syndromeMicroduplication |
| spellingShingle | Yung Chen Chien Jia Shing Chen Yu Ming Shiao Ching Hua Hsiao Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy Taiwanese Journal of Obstetrics & Gynecology X-linked intellectual disability Xq28 duplication syndrome Microduplication |
| title | Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy |
| title_full | Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy |
| title_fullStr | Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy |
| title_full_unstemmed | Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy |
| title_short | Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy |
| title_sort | prenatal diagnosis of de novo int22h1 int22h2 mediated xq28 duplication syndrome involving rab39b following a previous ambiguous genitalia pregnancy |
| topic | X-linked intellectual disability Xq28 duplication syndrome Microduplication |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922000857 |
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