SA25 AN INHERITED DISTAL 16P11.2 DELETION DEMONSTRATES VARIABLE EXPRESSIVITY AND INCOMPLETE PENETRANCE FOR PSYCHIATRIC ILLNESS AS WELL AS ASSOCIATION WITH RHIZOMELIC SHORTENING: A CASE REPORT
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.097
Abstract: Background The most commonly reported 16p Copy Number Variant (CNV) - 16p11.2 deletion syndrome (16pDS) (~600 kb; 29.5 -30.1 Mb) – has been robustly associated with schizophrenia (SZ), as well as Intellectual Disabilities (ID)/Developmental Delays (DD), congenital… read more here.
Keywords: distal 16p11; rhizomelic shortening; deletion; report ... See more keywords
Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting
Sign Up to like & getrecommendations! Published in 2020 at "Acta Obstetricia et Gynecologica Scandinavica"
DOI: 10.1111/aogs.13963
Abstract: Genetic testing platforms such as chromosomal microarray analysis and next generation sequencing often detect genetic variants of incomplete penetrance and variable expressivity. The difficulty to determine the exact genotype-phenotype correlations and to predict the clinical… read more here.
Keywords: detected prenatal; penetrance variable; prenatal setting; incomplete penetrance ... See more keywords