Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
Abstract In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetu...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-023-00666-w |
| _version_ | 1827602732182142976 |
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| author | Liselot van der Laan Daniel R. Hoekman Esther J. Wortelboer Marcel M. A. M. Mannens Angelique J. A. Kooper |
| author_facet | Liselot van der Laan Daniel R. Hoekman Esther J. Wortelboer Marcel M. A. M. Mannens Angelique J. A. Kooper |
| author_sort | Liselot van der Laan |
| collection | DOAJ |
| description | Abstract In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing. |
| first_indexed | 2024-03-09T05:25:39Z |
| format | Article |
| id | doaj.art-cdee43f63ea641df9e420ae6b6873a08 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-03-09T05:25:39Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-cdee43f63ea641df9e420ae6b6873a082023-12-03T12:37:19ZengBMCMolecular Cytogenetics1755-81662023-11-011611710.1186/s13039-023-00666-wPrenatal identification of an inverted duplicated 13q marker chromosome with a neocentromereLiselot van der Laan0Daniel R. Hoekman1Esther J. Wortelboer2Marcel M. A. M. Mannens3Angelique J. A. Kooper4Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of AmsterdamDepartment of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of AmsterdamDepartment of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of AmsterdamDepartment of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of AmsterdamDepartment of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of AmsterdamAbstract In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.https://doi.org/10.1186/s13039-023-00666-wNeocentromereMarker chromosomeFalse-negative NIPTPlacental mosaicism |
| spellingShingle | Liselot van der Laan Daniel R. Hoekman Esther J. Wortelboer Marcel M. A. M. Mannens Angelique J. A. Kooper Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere Molecular Cytogenetics Neocentromere Marker chromosome False-negative NIPT Placental mosaicism |
| title | Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| title_full | Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| title_fullStr | Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| title_full_unstemmed | Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| title_short | Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| title_sort | prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| topic | Neocentromere Marker chromosome False-negative NIPT Placental mosaicism |
| url | https://doi.org/10.1186/s13039-023-00666-w |
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