M. Fujita et al., A NEW CASE OF COMPLETE TRISOMY 5P WITH ISOCHROMOSOME 5P ASSOCIATED WITH A DE-NOVO TRANSLOCATION T(58)(Q11P23), Clinical genetics, 45(6), 1994, pp. 305-307
A boy with a de novo translocation t(5;8)(q11;p23) and an isochromosom
e 5p is described. The main clinical features found in the complete tr
isomies 5p are reviewed and the mechanisms of the chromosomal rearrang
ements involving centromeric and telomeric regions are discussed.