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EnglishTerminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.
| Autori interni: | |
| Autori: | Orsini, A; Bonuccelli, A; Striano, P; Azzara, A; Costagliola, Giorgio; Consolini, R; Peroni, Dg; Valetto, A; Bertini, V |
| Titolo: | Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7. |
| Anno del prodotto: | 2018 |
| Abstract: | Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype. |
| Digital Object Identifier (DOI): | 10.1016/j.seizure.2018.04.016 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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