Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome

G. Zamboni, F. Bernardi, C. Danesino, U. M. del Majno, G. Beghini, B. Dalla Bernardina

Research output: Contribution to journalArticlepeer-review

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 karyotype. 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.

Original languageEnglish
Pages (from-to)59-61
Number of pages3
JournalJournal of Medical Genetics
Volume17
Issue number1
Publication statusPublished - 1980

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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