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Cat eye syndrome

DiGeorge syndrome

Velocardiofacial syndrome

Normal Emanuel syndrome

[supernumerary der(22)]

Cat eye syndrome

Figure 5.1 Chromosomal rearrangements and chromosome 22q11. Differences in gene dosage involving 22q11 result in genomic disorders: interstitial hemizygous deletions are associated with DiGeorge/velocardiofacial syndrome; partial trisomy of 22pter-q11 is seen in supernumerary der(22) (Emanuel syndrome); and partial tetrasomy is seen in cat eye syndrome where an additional marker chromosome 22 containing an inversion duplication involving 22.q11 is seen. Redrawn and adapted from McDermid and Morrow (2002), copyright 2002, with permission from Elsevier.

Pericentromeric repeats

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