Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations.
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.
Ansermet
Francois
F
Geneva University Hospital, Geneva, Switzerland.
Lespinasse
James
J
Gimelli
Stefania
S
Béna
Frédérique
F
Paoloni-Giacobino
Ariane
A
D000293:Adolescent; D000328:Adult; D002650:Child Abuse, Sexual / Q000523:psychology*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000523:psychology; D017579:Domestic Violence / Q000523:psychology; D005219:Father-Child Relations; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007178:Inbreeding; D007179:Incest / Q000523:psychology*; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology*; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012649:Self Concept; D012931:Social Environment
D036341:Intercellular Signaling Peptides and Proteins; C051610:hepatoma-derived growth factor