Jacobsen syndrome. Literature review and a case report
| Autor: | A. V. Syrkina, N. V. Chebanenko, V. P. Zykov, N. S. Mikhailova |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Русский журнал детской неврологии, Vol 17, Iss 2, Pp 55-60 (2022) |
| Druh dokumentu: | article |
| ISSN: | 2073-8803 2412-9178 |
| DOI: | 10.17650/2073-8803-2022-17-2-55-60 |
| Popis: | The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|