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  • Title: Distinct dysmorphic syndrome in a child with inverted distal 5q duplication.
    Author: Fryns JP, Kleczkowska A, Borghgraef M, Raveschot J, Van den Berghe H.
    Journal: Ann Genet; 1987; 30(3):186-8. PubMed ID: 3499858.
    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.
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