Article Text

Download PDFPDF
Presumptive Mosaic Partial Trisomy Associated with Congenital Anomalies and Mental Deficiency
  1. Angela M. Vianna-Morgante,
  2. Wanderley M. Domingues,
  3. Claudio C. Ortega,
  4. Sanae Kasahara


    The case of a mentally retarded patient with congenital anomalies not typical of any known chromosome unbalance is reported. In his karyotype, 40·6% of the cells were normal, while 59·4% had a missing G and an almost metacentric marker longer than an F chromosome. The abnormal cell line was interpreted as resulting from a chromatid translocation involving the short arm of a No. 22 and a segment from an unidentified chromosome. The translocation probably took place after the first cell division and was followed by segregation of the translocated chromatids. Other obvious hypotheses were excluded by the study of fluorescence patterns. The patient's clinical features may be due to a partial autosomal trisomy.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


    • Laboratório de Genética Humana, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.

    • Centro de Habilitação da APAE, São Paulo, Brazil.