8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting releva...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/7608348 |
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| author | Alejandra Rincon Paola Paez-Rojas Fernando Suárez-Obando |
| author_facet | Alejandra Rincon Paola Paez-Rojas Fernando Suárez-Obando |
| author_sort | Alejandra Rincon |
| collection | DOAJ |
| description | 8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting relevant findings like hearing loss and severe epilepsy and the possible relations between the phenotype and the genes involved in the microdeletion. We describe a female with developmental delay, microcephaly, epilepsy, severe short stature, impaired speech, facial dysmorphism, and congenital deafness. A minimal/maximal deletion of 5.238 Mb and 5.374Mb, respectively, at 8q22.2q22.3 was diagnosed using a genome-wide array. The clinical phenotype is similar to the others seven patients previously reported; however, the severity of epilepsy and the concomitant hearing loss is remarkable, characteristics previously observed independently in only two patients. The KCNS2 gene is located in the deleted regions (8q22.2). Therefore it is a possible candidate for explaining the complex neurologic phenotype. |
| format | Article |
| id | doaj-art-c5975cea43514e64ac74bb71db72d6d1 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-c5975cea43514e64ac74bb71db72d6d12025-02-03T01:02:20ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/760834876083488q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable EpilepsyAlejandra Rincon0Paola Paez-Rojas1Fernando Suárez-Obando2Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, ColombiaInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, ColombiaInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Colombia8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting relevant findings like hearing loss and severe epilepsy and the possible relations between the phenotype and the genes involved in the microdeletion. We describe a female with developmental delay, microcephaly, epilepsy, severe short stature, impaired speech, facial dysmorphism, and congenital deafness. A minimal/maximal deletion of 5.238 Mb and 5.374Mb, respectively, at 8q22.2q22.3 was diagnosed using a genome-wide array. The clinical phenotype is similar to the others seven patients previously reported; however, the severity of epilepsy and the concomitant hearing loss is remarkable, characteristics previously observed independently in only two patients. The KCNS2 gene is located in the deleted regions (8q22.2). Therefore it is a possible candidate for explaining the complex neurologic phenotype.http://dx.doi.org/10.1155/2019/7608348 |
| spellingShingle | Alejandra Rincon Paola Paez-Rojas Fernando Suárez-Obando 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy Case Reports in Genetics |
| title | 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy |
| title_full | 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy |
| title_fullStr | 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy |
| title_full_unstemmed | 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy |
| title_short | 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy |
| title_sort | 8q22 2q22 3 microdeletion syndrome associated with hearing loss and intractable epilepsy |
| url | http://dx.doi.org/10.1155/2019/7608348 |
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