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  • Title: 9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32).
    Author: Sonoda T, Ohba K, Ohdo S, Sameshima K.
    Journal: Jinrui Idengaku Zasshi; 1991 Mar; 36(1):111-6. PubMed ID: 2062007.
    Abstract:
    A female infant with 46,XX,rec(9), dup q,inv(9)(p22q32)pat is presented. She had a duplication from 9q32 to qter and a deletion from 9p22 to 9pter. Phenotypical abnormalities observed corresponded with features noted in cases with distal dup (9q), while pathognomonic features of del(9p) syndrome were not observed.
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