| Autor: |
Lanping, Hu, Weihong, Wang, Hongyu, Li, Shihao, Zhou, Shan, Liu, Mengyue, Yang, Xiufen, Bu, Jun, He |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(10) |
| ISSN: |
1003-9406 |
| Popis: |
To carry out prenatal diagnosis on a fetus with abnormal findings by ultrasonography and non-invasive prenatal testing.The fetus and both parents were subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.The karyotypes of both parents were normal. The fetus carried a 46,N,der(X;16)(q28;q22) unbalanced translocation. SNP-array analysis confirmed that the derived chromosomal fragment of the fetus has originated from 16q. The fetus was diagnosed with 16q partial trisomy syndrome.Combined chromosomal karyotyping analysis and SNP-array can detect chromosomal aberrations at submicroscopic level and enable accurate diagnosis of the fetus. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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