التفاصيل البيبلوغرافية
| العنوان: |
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere |
| المؤلفون: |
Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper |
| المصدر: |
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023) |
| بيانات النشر: |
BMC, 2023. |
| سنة النشر: |
2023 |
| المجموعة: |
LCC:Genetics |
| مصطلحات موضوعية: |
Neocentromere, Marker chromosome, False-negative NIPT, Placental mosaicism, Genetics, QH426-470 |
| الوصف: |
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. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1755-8166 |
| Relation: |
https://doaj.org/toc/1755-8166 |
| DOI: |
10.1186/s13039-023-00666-w |
| URL الوصول: |
https://doaj.org/article/cdee43f63ea641df9e420ae6b6873a08 |
| رقم الانضمام: |
edsdoj.43f63ea641df9e420ae6b6873a08 |
| قاعدة البيانات: |
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