Jacobsen syndrome. Literature review and a case report
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 spe...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2022-09-01
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| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/399 |
| _version_ | 1797874416628006912 |
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| author | A. V. Syrkina N. V. Chebanenko V. P. Zykov N. S. Mikhailova |
| author_facet | A. V. Syrkina N. V. Chebanenko V. P. Zykov N. S. Mikhailova |
| author_sort | A. V. Syrkina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:31:41Z |
| format | Article |
| id | doaj.art-93f4155de89a44f5899d70357769724f |
| institution | Directory Open Access Journal |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| last_indexed | 2024-04-10T01:31:41Z |
| publishDate | 2022-09-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj.art-93f4155de89a44f5899d70357769724f2023-03-13T09:30:13ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782022-09-01172556010.17650/2073-8803-2022-17-2-55-60272Jacobsen syndrome. Literature review and a case reportA. V. Syrkina0N. V. Chebanenko1V. P. Zykov2N. S. Mikhailova3ФГБУ «Национальный медицинский исследовательский центр трансплантации и искусственных органов им. акад. В. И. Шумакова» Минздрава РоссииФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииГБУЗ «Детская городская поликлиника № 94 филиал № 3»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.https://rjdn.abvpress.ru/jour/article/view/399синдром якобсенаделеция длинного плеча хромосомы 11делеция 11q23гипомиелинизациягемипарезсиндром пэрис–труссоаутизмзадержка психомоторного развитияиммунодефицит |
| spellingShingle | A. V. Syrkina N. V. Chebanenko V. P. Zykov N. S. Mikhailova Jacobsen syndrome. Literature review and a case report Русский журнал детской неврологии синдром якобсена делеция длинного плеча хромосомы 11 делеция 11q23 гипомиелинизация гемипарез синдром пэрис–труссо аутизм задержка психомоторного развития иммунодефицит |
| title | Jacobsen syndrome. Literature review and a case report |
| title_full | Jacobsen syndrome. Literature review and a case report |
| title_fullStr | Jacobsen syndrome. Literature review and a case report |
| title_full_unstemmed | Jacobsen syndrome. Literature review and a case report |
| title_short | Jacobsen syndrome. Literature review and a case report |
| title_sort | jacobsen syndrome literature review and a case report |
| topic | синдром якобсена делеция длинного плеча хромосомы 11 делеция 11q23 гипомиелинизация гемипарез синдром пэрис–труссо аутизм задержка психомоторного развития иммунодефицит |
| url | https://rjdn.abvpress.ru/jour/article/view/399 |
| work_keys_str_mv | AT avsyrkina jacobsensyndromeliteraturereviewandacasereport AT nvchebanenko jacobsensyndromeliteraturereviewandacasereport AT vpzykov jacobsensyndromeliteraturereviewandacasereport AT nsmikhailova jacobsensyndromeliteraturereviewandacasereport |