دورية أكاديمية
Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
| العنوان: | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1 |
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| المؤلفون: | Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang |
| المصدر: | Journal of International Medical Research, Vol 50 (2022) |
| بيانات النشر: | SAGE Publishing, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine (General) |
| مصطلحات موضوعية: | Medicine (General), R5-920 |
| الوصف: | The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel–Giedion syndrome or intellectual developmental disorder, autosomal dominant 29. We report the prenatal diagnosis and genetic counseling of a patient with a maternally inherited 18q12.3 microdeletion. In this family, the mother and son carried the same microdeletion. Chromosomal microdeletions and microduplications are difficult to detect using conventional cytogenetics, whereas the combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis, and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1473-2300 03000605 |
| Relation: | https://doaj.org/toc/1473-2300 |
| DOI: | 10.1177/03000605221121955 |
| URL الوصول: | https://doaj.org/article/852d544f9c8648ce932c04ad50700ac7 |
| رقم الأكسشن: | edsdoj.852d544f9c8648ce932c04ad50700ac7 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14732300 03000605 |
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| DOI: | 10.1177/03000605221121955 |