• Title of article

    Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease

  • Author/Authors

    Bijanzadeh, Mahdi Atherosclerosis Research Center - Ahvaz JundiShapur University of Medical Sciences - Ahvaz - Iran , Rajaei Behbahani, Shahram Atherosclerosis Research Center - Ahvaz JundiShapur University of Medical Sciences - Ahvaz - Iran

  • Pages
    3
  • From page
    356
  • To page
    358
  • Abstract
    Double trisomy 48, XXY, +21 or Down-Klinefelter syndrome is a rare occurrence and presents clinical manifestation of trisomy 21 in early life and of Klinefelter syndrome after 10 months of age. The phenotypic and karyotyping characteristics of a 2-month-old boy were reported. He had mild clinical feature of Down syndrome and echocardiographic features of atrioventricular (AV) septal defects with severe pulmonary valve stenosis. Keywords:
  • Keywords
    Down syndrome , Chromosome abnormalities , Congenital heart disease , Double aneuploidy , Klinefelter syndrome
  • Journal title
    Archives of Iranian Medicine
  • Serial Year
    2020
  • Record number

    2631081

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2631081