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  • Title: Translocation/duplication of 9p onto a duplicated 4q.
    Author: Rivera H, Figuera LE, Vasquez AI.
    Journal: Genet Couns; 1992; 3(4):201-3. PubMed ID: 1472355.
    Abstract:
    A 5-month-old girl with the classical dysmorphism of the 9p trisomy syndrome and a severe heart defect was found to have an unbalanced translocation of 9pter-->p22 onto q35 of a chromosome 4 with an inverted duplication of q32-->q35. This concurrence of two de novo rearrangements suggests that the breakpoint at 4q35 not only participated in the translocation but also predisposed to the segmental duplication of 4q.
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