Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.
- 1 February 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (1) , 59-61
- https://doi.org/10.1136/jmg.17.1.59
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.Keywords
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