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  • Title: A case of Amelogenin Y-null: a simple primer binding site mutation or unusual genetic anomaly?
    Author: Davis C, Illescas M, Tirado C, Lopez R, Budowle B, Cruz TD.
    Journal: Leg Med (Tokyo); 2012 Nov; 14(6):320-3. PubMed ID: 22721879.
    Abstract:
    A thirteen year old boy was murdered by a gunshot wound to the head. In order to confirm identity of the boy, samples were sent to the Instituto de Ciencias Forenses de Puerto Rico (PR-ICF) DNA laboratory. Autosomal DNA results exhibited only an X at the Amelogenin locus, whereas the autopsy results reported the child to be anatomically male. The sample was amplified with four separate YSTR marker systems. While a full Y-STR profile for the father of the boy was obtained, the boy only amplified at STR markers on the p arm of the Y chromosome. Theories that could account for this large absence of Y-STR results include an X-Y translocation or Yp isochromosome.
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