Reference Work Entry

Encyclopedia of Molecular Mechanisms of Disease

pp 1078-1080

Inv Dup Del (8p)

  • Orsetta ZuffardiAffiliated withInstitute of Physiology, University of TuebingenGenetica Medica, Università di Pavia
  • , Roberto CicconeAffiliated withInstitute of Physiology, University of TuebingenGenetica Medica, Università di Pavia
  • , Roberto GiordaAffiliated withMolecular Biology Laboratory, E. Medea Scientific Institute

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).

Inv Dup Del (8p). Figure 1

(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 w ...

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