Synonyms
8p Inverted duplication; 8p Mirror duplication
Definition and Characteristics
Early studies on patients with the inv dup del (8p) showed that this rearrangement is characterized by an inverted duplication associated with a deletion of the distal portion of 8p (8p23.2-pter). Further molecular studies [1] demonstrated that in all cases there is a normal region (“single copy region”) between the deletion and the duplication region. At variance with the deleted and single copy regions that always have the same size of about 7 and 3.5 Mb, respectively, the duplicated region ranges in different subjects from about 10 Mb to the centromere. In the latter case, the abnormal chromosome 8 ends with an inactive centromere detectable by FISH with an alphoid probe (Fig. 1a).
(a) FISH with the alphoid probe specific for chromosome 8 showing a second hybridization signal on the tip of the inv dup del chromosome; (b) Dual-color FISH with probes RP11-399J23 (green)...
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References
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Acknowledgments
This work was supported by the Ministero dell’Università e della Ricerca (MIUR) (cofin05-MIUR to O.Z.), the Mariani Foundation (R-06-55) and the Cariplo Foundation (both to O.Z.).
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Zuffardi, O., Ciccone, R., Giorda, R. (2009). Inv Dup Del (8p). In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_970
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DOI: https://doi.org/10.1007/978-3-540-29676-8_970
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