| Autor: |
Bo, Zhang, Jinghui, Kong, Shiyue, Mei, Dongxiao, Li, Yinsen, Song |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(7) |
| ISSN: |
1003-9406 |
| Popis: |
To delineate the nature and origin of chromosomal aberration in a girl with mental retardation.Genomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded chromosomal karyotyping analysis.SNP array has identified a 1.2 Mb microdeletion at 10p15.3 and a duplication at 18p11.21-pter in the proband. The patient was also found to harbor a structural aberration involving 10p. The karyotype of her father was 46,XY,t(10;18)(p15;p11.2), while her mother was found to be normal.The structural aberration of 10p carried by the patient has derived from her father whom has carried a balanced translocation of t(10;18). Her karyotype was finally determined as 46,XX,der(10)t(10;18)(p15;p11.2)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 10p15.3 microdeletion and 18p11.21-pter duplication. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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