Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations

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

Acknowledgments

We thank the patient and her mother. APG is supported by Swiss National Science Foundation FNS 3100A0-116021 and the Swiss Academy for Medical Sciences.

Additional information

Notes on contributors

François Ansermet

François Ansermet, MD, is at the Geneva University Hospital, Geneva, Switzerland.

James Lespinasse

James Lespinasse, MD, is at the General Hospital, Chambery, France.

Stefania Gimelli

Stefania Gimelli, PhD, is at the Geneva University Hospital, Geneva, Switzerland.

Frédérique Béna

Frédérique Béna, PhD, is at the Geneva University Hospital, Geneva, Switzerland.

Ariane Paoloni-Giacobino

Ariane Paoloni-Giacobino, MD, is at the Geneva University Hospital, Geneva, Switzerland.