Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France;Service de Pédiatrie 2, Hôpital de Hautepierre, Strasbourg, France
Abstract:
A boy with a de novo translocation t(5;8)(q11;p23) and an isochromosome 5p is described. The main clinical features found in the complete trisomies 5p are reviewed and the mechanisms of the chromosomal rearrangements involving centromeric and telomeric regions are discussed.