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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

    Abstract

    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.

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    Footnotes

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

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

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