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Minimal dysmorphic stigmata in 9q deletion of paternal origin
A Kleczkowska1, J P Fryns, L Lemli
1Center for Human Genetics, University of Leuven, Belgium.
Abstract:
In this report, we describe a 6 month old girl with a "pure" deletion 9 (pter----p22:) of paternal origin and very discrete facial dysmorphism as the only minimal phenotypic expression of the chromosomal imbalance. We hypothesize that the phenotypic expression in pure 9p deletion may depend from its parental origin.