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  • Title: Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
    Author: Engelen JJ, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, Hamers AJ.
    Journal: Am J Med Genet; 2002 Apr 22; 109(2):149-53. PubMed ID: 11977164.
    Abstract:
    We report a 40-year-old female with mild mental retardation and behavior problems and her 6-year-old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band-specific probes, resulting in a 46,XX,dir dup(16)(pter --> p11.2::p12.1 --> qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature.
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