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Distinct dysmorphic syndrome in a child with inverted distal 5q duplication
J P Fryns1, A Kleczkowska, M Borghgraef
1Centre for Human Genetics, UZ Gasthuisberg, Leuven, Belgium.
Annales De Genetique
|January 1, 1987
Abstract:
In the present paper we report a moderately mentally retarded 3 1/2-year-old girl with distal inverted 5q duplication (karyotype 46,XX,inv dup(5)(pter----q35.3::q35.3----q32::q35.3----qter). A distinct dysmorphic syndrome was present corresponding to the socalled "B-type" phenotype in 5q duplications, due to a duplication of band 5q33.