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Purpose: Incomplete penetrance is observed for most monogenic diseases. Method: From to , we proposed a collaboration study with the French molecular diagnosis for intellectual disability network.
The aim was to recruit families for whom the index case, diagnosed with a neurodevelopmental disorder, was carrying a pathogenic or likely pathogenic variant for an OMIM morbid gene and inherited from an asymptomatic parent.
Grandparents were analyzed when available for segregation study. These genes were usually associated with de novo variants. Grandparents have been tested in 6 families, and each time the variant was confirmed de novo in the healthy carrier parent. This point is crucial to consider for interpretation of variants, family investigation, genetic counseling, and prenatal diagnosis. Molecular mechanisms underlying this incomplete penetrance still need to be identified. Keywords: Incomplete penetrance; Intellectual disability; Monogenic; Neurodevelopmental disorder.
All rights reserved. Abstract Purpose: Incomplete penetrance is observed for most monogenic diseases.