Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
Am J Med Genet A
; 164A(8): 2043-7, 2014 Aug.
Article
em En
| MEDLINE
| ID: mdl-24838842
ABSTRACT
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present.
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Paralisia Cerebral
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Transtornos Cromossômicos
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Epilepsia
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Duplicação Cromossômica
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article