Minimal dysmorphic stigmata in 9q deletion of paternal origin.
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.
Kleczkowska
A
A
Center for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Lemli
L
L
Van den Berghe
H
H
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*