Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)
- 15 September 2003
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 124A (1) , 92-95
- https://doi.org/10.1002/ajmg.a.20384
Abstract
Pericentric inversions occur at a frequency of 0.12–0.7% in humans. However, pericentric inversions of chromosome 22 appear to be common, especially in patients originating from the Guadalajara region of Mexico. Here, we report a seventh case of a pericentric inversion of chromosome 22, the resulting recombinant chromosome, and describe the phenotypic features associated with such a recombinant chromosome. It is interesting that five of the seven patients with inv(22) come from Mexico, and four of the five patients from the Guadalajara region.Keywords
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