A case report of a de novo tandem duplication (5p) (p14----pter)

The case described in this paper represents on the basis of cytogenetic evidence, the first reported example of a de novo tandem dup (5p)(p14----pter). Clinical changes were minimal, unlike previously described cases in which more complex structural chromosomal changes were involved and a phenotype was provisionally attributed to dup (5p)(p14----pter). The duplicated segment of minimal effect identified in this case involved more than five eighths of 5p. It is proposed that there is a localised critical segment elsewhere on the short arm of chromosome 5 (p11-p13), which when duplicated is of greater significance in terms of clinical effects.