A case report of a de novo tandem duplication (5p) (p14 → pter)
- 1 February 1987
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 31 (2) , 65-69
- https://doi.org/10.1111/j.1399-0004.1987.tb02771.x
Abstract
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.Keywords
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