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BMJ Publishing Group, Journal of Medical Genetics, 6(24), p. 375-377, 1987

DOI: 10.1136/jmg.24.6.375

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Ring 20 chromosome phenotype.

Journal article published in 1987 by B. Porfirio ORCID, M. G. Valorani, A. Giannotti, G. Sabetta, B. Dallapiccola
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome.