دورية أكاديمية
Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report
| العنوان: | Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report |
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| المؤلفون: | Yiming Wang, Joanna Lazier, Diane Myles‐Reid, Abdul Noor, David Chitayat, Elena Greenfeld |
| المصدر: | Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023) |
| بيانات النشر: | Wiley, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | microdeletion, neocentromere, preimplantation genetic testing, small supernumerary ring chromosome, Medicine, Medicine (General), R5-920 |
| الوصف: | Abstract Small supernumerary marker chromosomes (sSMC) can form small supernumerary ring chromosomes (sSRC). Loss of parentally inherited sSRC containing vital gene content may cause an “unbalanced” karyotype and fetal microdeletion syndromes. Rarely, sSRC with neocentromere can be inherited, leading to a “balanced” karyotype, which can be diagnosed with preimplantation genetic testing. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-0904 |
| Relation: | https://doaj.org/toc/2050-0904 |
| DOI: | 10.1002/ccr3.6632 |
| URL الوصول: | https://doaj.org/article/f1070b0924f9484d89d8704f1ff54a03 |
| رقم الأكسشن: | edsdoj.f1070b0924f9484d89d8704f1ff54a03 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20500904 |
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| DOI: | 10.1002/ccr3.6632 |