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  • Title: Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.
    Author: Qumsiyeh MB, Dalton JD, Gordon PL, Wilroy RS, Tharapel AT.
    Journal: Am J Med Genet; 1992 Jan 01; 42(1):109-11. PubMed ID: 1308348.
    Abstract:
    Chromosome analysis of lymphocytes from a patient with the clinical presentation of Prader-Willi syndrome showed the presence of 45 chromosomes, including a der(Y) resulting from an unbalanced t(Y;15)(q12;q11.2). In situ hybridization using DYZ3 and DYZ2 showed positive signals at the paracentromeric region on the short arm and at the heterochromatic region of the long arm of the Y chromosome, respectively. The Prader-Willi syndrome in this patient is caused by the deficiency of a very small region involving 15cen-->q11.2.
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