Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome

ConclusionsWe present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders.Trial registrationsClinicalTrials.govNCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01 October 1989.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research