Author(s): Buckton KE, Spowart G, Newton MS, Evans HJ
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Abstract Information is presented which has been obtained from an exhaustive examination of 44 probands with a supernumerary marker chromosome (mar) and their families. The data include the derivation of the mar, frequency in various populations, inheritance and possible effect on fertility, congenital abnormality, and mental ability. The practical problems in assessing the risk of abnormality in a foetus discovered during prenatal diagnosis to be carrying a mar, are discussed.
This article was published in Hum Genet
and referenced in Journal of Genetic Syndromes & Gene Therapy