Prenatal detection of a de novo duplication of the long arm of chromosome 7

Amniocentesis was performed for maternal age and subsequent cytogenetic studies revealed a male fetus with a mosaic karyotype, one cell line having a duplication for the long arm of chromosome 7. The pregnancy was terminated and the two cell lines confirmed in varying proportions in the fetal tissues. External examination of the fetus revealed only growth retardation and a high forehead. The lack of phenotypic defects and the possible aetiology of the de novo rearrangement are considered.     

Duplication of chromosome 11 centromere in fetal and maternal karyotypes: A new variant?

Fetal chromosome analysis in a 39-year-old mother revealed a chromosome 11 aberration interj ireted as a duplication of the centromere. This was also found in the mother's karyotype, raising the possibility that the abnormality was a new variant of no clinical consequence.