Significance of detection of extra metacentric microchromosome in amniotic cell culture.
- 1 April 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (2), 136-142
- https://doi.org/10.1136/jmg.15.2.136
Abstract
A metacentric bisatellited microchromosome was detected in all metaphases from an amniotic culture performed because of maternal age. Any consistent anomaly associated with such a marker was not found in the literature, but the clinical picture of patients manifesting it could range from complete normality through mental retardation to a variety of deformities. The parents elected for termination and the only deformity detected in the abortus was fixed talipes equinovarus. The implications of the finding of this marker chromosome on amniocentesis are discussed particularly in the context of genetic counselling.Keywords
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