Amplification of satellite III DNA in an unusually large chromosome 14p+ variant

Summary A phenotypically normal male (WSm) was found to have an unusually large short arm of chromosome 14. Increase in the size of this variant chromosome Wsm-var(14)] was estimated to be approximately 30% that of a normal chromosome 14 by G-banding using trypsin and staining with Leishman. The extra chromosomal material was positive in CBG staining (C-banding using BaOH and staining with Giemsa), suggesting the presence of repetitive DNA. In situ hybridisation using repetitive probes demonstrated this material to be strongly positive for satellite III DNA, and negative for Y-specific heterochromatic DNA. Hybridisation with an alpha DNA probe specific for human acrocentric chromosomes indicated the retention of the centromere, and the absence of alpha DNA in the extra chromosomal material. We propose the origin of the extra chromosomal material in WSm-var(14) to be a result of amplification of contiguous satellite III DNA that is normally present in the short arm of chromosome 14. This variant chromosome does not appear to be associated with the abnormal phenotype in WSm's daughter who is mentally retarded and carries a t(1;?)(q41;?) translocation of chromosome 1.