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  • Title: Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.
    Author: Ioan DM, Maximilian C, Kleczkowska A, Fryns JP.
    Journal: Ann Genet; 1992; 35(3):167-9. PubMed ID: 1466567.
    Abstract:
    A 6 8/12-year-old girl with severe mental retardation, multiple congenital malformations and a de novo distal deletion of the long arm of chromosome 1 [del 1 (q43-->qter)] is here described. A review of the reported patients does not allow to distinguish different phenotypes related to distal deletion 1q42 and/or 1q43.
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