Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases

Authors


Dr Katja Eggermann,
Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, D-52076 Aachen, Germany.
Tel.: 49-241-8088008;
fax: 49-241-8082394;
e-mail: Keggerman@ukaachen.de

Abstract

Small supernumerary marker chromosomes (SMC) are a heterogeneous group of chromosomes with an estimated frequency of approximately 0.14–0.72 per 1000 newborns and higher frequencies in particular populations such as the mentally retarded or infertile males. With a frequency of about 50%, derivatives of chromosome 15 represent the most common SMC. Here we present the results of a detailed analysis of 32 SMC(15) carriers who were ascertained in pre- or post-natal routine cytogenetic diagnostics. SMC(15) with euchromatic content led to mental and psychomotor retardation. In contrast, SMC(15) without euchromatin were found to have no influence on the carrier's phenotype but were detected with a high incidence among infertile males. The majority of SMC(15) are pseudodicentric homologous rearrangements. Based on our investigations a further characterization of der(15) was possible.

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