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Research Article
Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.
  1. G Zamboni,
  2. F Bernardi,
  3. C Danesino,
  4. U M del Majno,
  5. G Beghini,
  6. B Dalla Bernardina

    Abstract

    A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and it is difficult to relate the phenotype of the infant to the cytogenetic findings.

    https://doi.org/10.1136/jmg.17.1.59

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