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Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations
Authors:François Ansermet  James Lespinasse  Stefania Gimelli  Frédérique Béna
Affiliation:1. Geneva University Hospital , Geneva, Switzerland;2. General Hospital , Chambery, France
Abstract:
We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the proband, encompassing only one known gene, and therefore unlikely to be the cause of the phenotype. However, the role of other genetic factors, such as a recessive condition, could not be ruled out as a putative cause for the phenotype. On the other hand, the role played by a heavily detrimental familial situation on the development and outcome, and possibly leading or contributing to a mild intellectual disability, should be taken into account.
Keywords:intellectual disability  consanguinity  incest  sexual abuse  genetic  microdeletion
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