| Autor: |
V, Caballero Pérez, F J, López Pisón, M D, Miramar Gallart, A, González Álvarez, M C, García Jiménez, J P, García Iñiguez, C, Orden Rueda, I, Gil Hernández, C, Fuertes Rodrigo, R, Fernando Martínez, A, Rodríguez Valle, M J, Alcaine Villarroya |
| Rok vydání: |
2015 |
| Předmět: |
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| Zdroj: |
Neurologia (Barcelona, Spain). 32(9) |
| ISSN: |
1578-1968 |
| Popis: |
Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test.We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH.Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25).Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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