A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations
We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth reta...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2021-02-01
|
| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/354 |
| _version_ | 1797874473623355392 |
|---|---|
| author | M. Yu. Bobylova M. O. Abramov A. V. Kovalskaya A. A. Alikhanov K. Yu. Mukhin |
| author_facet | M. Yu. Bobylova M. O. Abramov A. V. Kovalskaya A. A. Alikhanov K. Yu. Mukhin |
| author_sort | M. Yu. Bobylova |
| collection | DOAJ |
| description | We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. The patient has multiple stigmas of dysembryogenesis, but no abnormalities in the development of internal organs. The somatic status is complicated by chronic liquid aspiration and sleep apnea. Magnetic resonance imaging has demonstrated agenesis of the corpus callosum. In this article, we have summarized the results of clinical observation and electroencephalography findings obtained during several years. The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18. |
| first_indexed | 2024-04-10T01:31:31Z |
| format | Article |
| id | doaj.art-6a6e5bc1f41942ce90c027f4b8b37135 |
| institution | Directory Open Access Journal |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| last_indexed | 2024-04-10T01:31:31Z |
| publishDate | 2021-02-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj.art-6a6e5bc1f41942ce90c027f4b8b371352023-03-13T09:30:12ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782021-02-01153-4789110.17650/2073-8803-2020-15-3-4-78-91238A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestationsM. Yu. Bobylova0M. O. Abramov1A. V. Kovalskaya2A. A. Alikhanov3K. Yu. Mukhin4ООО «Институт детской неврологии и эпилепсии им. Святителя Луки»; ООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»ООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»ООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»ООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»;ООО «Институт детской неврологии и эпилепсии им. Святителя Луки»; ООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. The patient has multiple stigmas of dysembryogenesis, but no abnormalities in the development of internal organs. The somatic status is complicated by chronic liquid aspiration and sleep apnea. Magnetic resonance imaging has demonstrated agenesis of the corpus callosum. In this article, we have summarized the results of clinical observation and electroencephalography findings obtained during several years. The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18.https://rjdn.abvpress.ru/jour/article/view/354эпилепсиянесбалансированная инверсия хромосомы 4хромосома 18синдром вольфа–хиршхорнаэпилептическая энцефалопатиявидеоэлектроэнцефалографический мониторинг |
| spellingShingle | M. Yu. Bobylova M. O. Abramov A. V. Kovalskaya A. A. Alikhanov K. Yu. Mukhin A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations Русский журнал детской неврологии эпилепсия несбалансированная инверсия хромосомы 4 хромосома 18 синдром вольфа–хиршхорна эпилептическая энцефалопатия видеоэлектроэнцефалографический мониторинг |
| title | A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations |
| title_full | A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations |
| title_fullStr | A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations |
| title_full_unstemmed | A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations |
| title_short | A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations |
| title_sort | case of inversion of chromosome 4 and an unbalanced transloca tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl evolution of clinical and electroencephalographic manifestations |
| topic | эпилепсия несбалансированная инверсия хромосомы 4 хромосома 18 синдром вольфа–хиршхорна эпилептическая энцефалопатия видеоэлектроэнцефалографический мониторинг |
| url | https://rjdn.abvpress.ru/jour/article/view/354 |
| work_keys_str_mv | AT myubobylova acaseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT moabramov acaseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT avkovalskaya acaseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT aaalikhanov acaseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT kyumukhin acaseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT myubobylova caseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT moabramov caseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT avkovalskaya caseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT aaalikhanov caseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations AT kyumukhin caseofinversionofchromosome4andanunbalancedtranslocationbetweentheshortarmofchromosome4andlongarmofchromosome18inagirlevolutionofclinicalandelectroencephalographicmanifestations |