De novo inverted interstitial (“mirror”) duplication of chromosome 8(q13→q24.1) in a liveborn male
- 1 April 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (4) , 529-531
- https://doi.org/10.1002/ajmg.1320350418
Abstract
We report on a newborn boy with a de novo inverted interstitial duplication of chromosome 8(q13→q24.1). This form of cytogenetic abnormality, in which a mirror image interstitial duplication has occurred, is exceedingly rare. Review of the literature and mechanisms to explain the origin of this type of chromosome aberration are presented. A review of the findings from individuals with partial dup(8q) demonstrate remarkable similarity to the infant we describe.Keywords
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