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8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
Joint Authors
Rincon, Alejandra
Paez-Rojas, Paola
Suárez-Obando, Fernando
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-01-10
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rincon, Alejandra& Paez-Rojas, Paola& Suárez-Obando, Fernando. 2019. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1136072
Modern Language Association (MLA)
Rincon, Alejandra…[et al.]. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. Case Reports in Genetics No. 2019 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-1136072
American Medical Association (AMA)
Rincon, Alejandra& Paez-Rojas, Paola& Suárez-Obando, Fernando. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1136072
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136072