| Autor: |
Zoe Baker, Andrew Cowan, Arthi Hannallah, Thalia Bajakian, Christopher Gayer, Shengmei Zhou, Andy Chang, Yuding Wang, Paul Kokorowski |
| Rok vydání: |
2022 |
| Zdroj: |
Surgical Case Reports. :1-3 |
| ISSN: |
2613-5965 |
| DOI: |
10.31487/j.scr.2022.08.01 |
| Popis: |
A 20-month-old female presented with a palpable abdominal mass. Imaging revealed bilateral renal masses and pulmonary nodules. The genetic evaluation identified a de novo 540kb X-chromosome deletion involving GPC3, PHF6, and HPRT1, and highly skewed X-inactivation (100:0). This clinical picture was suggestive of Wilms’ tumor in the setting of Simpson-Golabi-Behmel Syndrome. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
